{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360424843", "communityStandardTitle": [ "NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1261962[alleleid]", "alleleId": 1261962, "preferredName": "NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1272069", "RCV": [ "RCV001684642" ], "variationId": 1272069 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.88100453C>A?assembly=hg19", "id": "chr5:g.88100453C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.88804636C>A?assembly=hg38", "id": "chr5:g.88804636C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2153074000", "rs": 2153074000 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 88804636, "referenceAllele": "C", "start": 88804635 } ], "hgvs": [ "NC_000005.10:g.88804636C>A", "CM000667.2:g.88804636C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 88100453, "referenceAllele": "C", "start": 88100452 } ], "hgvs": [ "NC_000005.9:g.88100453C>A", "CM000667.1:g.88100453C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 88136209, "referenceAllele": "C", "start": 88136208 } ], "hgvs": [ "NC_000005.8:g.88136209C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 104470, "referenceAllele": "G", "start": 104469 } ], "hgvs": [ "NG_023427.1:g.104470G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003860" } ], "transcriptAlleles": [ { "coordinates": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS758035", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000504921.7:c.220G>T" }, "RefSeq": { "hgvs": "NM_002397.5:c.220G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421925.5:p.Glu74Ter" }, "RefSeq": { "hgvs": "NP_002388.2:p.Glu74Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636294.1:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000490473.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763016" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636541.1:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000489865.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000489865.1:p.Glu74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS763197" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000636998.1:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000490630.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000490630.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763534" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000637481.1:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000490354.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000490354.1:p.Glu74_Thr462delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763888" }, { "coordinates": [ { "allele": "T", "end": 493, "referenceAllele": "G", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000637732.1:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000490241.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000490241.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764071" }, { "coordinates": [ { "allele": "T", "end": 34, "referenceAllele": "G", "start": 33 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000637754.2:n.34G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764084" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "G", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000340208.9:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000340874.5:p.Glu74Ter", "hgvsWellDefined": "ENSP00000340874.5:p.Glu74_Thr483delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261048" }, { "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000424173.6:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000389610.2:p.Glu74Ter", "hgvsWellDefined": "ENSP00000389610.2:p.Glu74_Thr463delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288130" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000437473.6:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000396219.2:p.Glu74Ter", "hgvsWellDefined": "ENSP00000396219.2:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294480" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000502831.5:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000427286.2:p.Glu74Ter", "hgvsWellDefined": "ENSP00000427286.2:p.Glu74Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS335297" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000502983.5:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000427163.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000427163.1:p.Glu74_Ser129del" }, "referenceSequence": "http://reg.genome.network/refseq/RS335412" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": 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"ENSP00000487311.1:p.Glu74_Thr417delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407088" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000629612.2:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000486554.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000486554.1:p.Glu74_Thr465delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407248" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "ENST00000631026.2:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000485972.1:p.Glu74Ter", "hgvsWellDefined": "ENSP00000485972.1:p.Glu74_Gly205del" }, "referenceSequence": "http://reg.genome.network/refseq/RS407461" }, { "@id": "http://reg.genome.network/allele/PA2825772894", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001131005.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001124477.1:p.Glu74Ter", "hgvsWellDefined": "NP_001124477.1:p.Glu74_Thr463delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012163" }, { "@id": "http://reg.genome.network/allele/PA2826179479", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193347.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180276.1:p.Glu74Ter", "hgvsWellDefined": "NP_001180276.1:p.Glu74_Thr483delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016364" }, { "@id": "http://reg.genome.network/allele/PA2826179747", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193348.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180277.1:p.Glu74Ter", "hgvsWellDefined": "NP_001180277.1:p.Glu74_Thr417delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016365" }, { "@id": "http://reg.genome.network/allele/PA2826180021", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Glu74Ter", "hgvsWellDefined": "NP_001180278.1:p.Glu74_Thr393delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016366" }, { "@id": "http://reg.genome.network/allele/PA2826180294", "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193350.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180279.1:p.Glu74Ter", "hgvsWellDefined": "NP_001180279.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016367" }, { "@id": "http://reg.genome.network/allele/PA2826918502", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Glu74Ter", "hgvsWellDefined": "NP_001294931.1:p.Glu74_Thr465delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026076" }, { "@id": "http://reg.genome.network/allele/PA2499261128", "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_002397.4:c.220G>T" ], "proteinEffect": { "hgvs": "NP_002388.2:p.Glu74Ter", "hgvsWellDefined": "NP_002388.2:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027703" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_005248511.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_005248568.1:p.Glu74Ter", "hgvsWellDefined": "XP_005248568.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058470" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714618.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_006714681.1:p.Glu74Ter", "hgvsWellDefined": "XP_006714681.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070748" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714619.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_006714682.1:p.Glu74Ter", "hgvsWellDefined": "XP_006714682.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070749" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714625.2:c.220G>T" ], "proteinEffect": { "hgvs": "XP_006714688.1:p.Glu74Ter", "hgvsWellDefined": "XP_006714688.1:p.Glu74_Thr483delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070750" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "G", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543396.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541698.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541698.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110320" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543397.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541699.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541699.1:p.Glu74_Thr471delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110321" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543399.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541701.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541701.1:p.Glu74_Thr463delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110322" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543400.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541702.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541702.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110323" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543401.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541703.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541703.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110324" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543402.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541704.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541704.1:p.Glu74_Thr431delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110325" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543403.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541705.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541705.1:p.Glu74_Thr425delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110326" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543404.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541706.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541706.1:p.Glu74_Thr417delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS110328" }, { "@id": "http://reg.genome.network/allele/PA2826180021", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Glu74Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS511781" }, { "@id": "http://reg.genome.network/allele/PA2826918502", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS512367" }, { "@id": "http://reg.genome.network/allele/PA2828097913", "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001363581.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001350510.1:p.Glu74Ter", "hgvsWellDefined": "NP_001350510.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523401" }, { "@id": "http://reg.genome.network/allele/PA2828139943", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364329.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351258.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351258.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523802" }, { "@id": "http://reg.genome.network/allele/PA2828140245", "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364330.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351259.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351259.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523803" }, { "@id": "http://reg.genome.network/allele/PA2828140547", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364331.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351260.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351260.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523804" }, { "@id": "http://reg.genome.network/allele/PA2828140849", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351261.1:p.Glu74_Thr393delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523805" }, { "@id": "http://reg.genome.network/allele/PA2828141123", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364333.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351262.1:p.Glu74_Thr465delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523806" }, { "@id": "http://reg.genome.network/allele/PA2828141421", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351263.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523807" }, { "@id": "http://reg.genome.network/allele/PA2828141718", "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351264.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523808" }, { "@id": "http://reg.genome.network/allele/PA2828142015", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351265.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523809" }, { "@id": "http://reg.genome.network/allele/PA2828142312", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351266.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523810" }, { "@id": "http://reg.genome.network/allele/PA2828142609", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351267.1:p.Glu74_Thr451delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523811" }, { "@id": "http://reg.genome.network/allele/PA2828142858", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364339.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351268.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351268.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523812" }, { "@id": "http://reg.genome.network/allele/PA2828143151", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351269.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523813" }, { "@id": "http://reg.genome.network/allele/PA2828143444", "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351270.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523814" }, { "@id": "http://reg.genome.network/allele/PA2828143737", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351271.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523815" }, { "@id": "http://reg.genome.network/allele/PA2828144030", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351272.1:p.Glu74_Thr431delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523816" }, { "@id": "http://reg.genome.network/allele/PA2828144309", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364344.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351273.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351273.1:p.Glu74_Thr425delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523817" }, { "@id": "http://reg.genome.network/allele/PA2828144588", "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364345.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351274.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351274.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523818" }, { "@id": "http://reg.genome.network/allele/PA2828144850", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364346.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351275.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351275.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523819" }, { "@id": "http://reg.genome.network/allele/PA2828145112", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364347.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351276.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351276.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523820" }, { "@id": "http://reg.genome.network/allele/PA2828145370", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364348.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351277.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351277.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523821" }, { "@id": "http://reg.genome.network/allele/PA2828145628", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364349.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351278.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351278.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523822" }, { "@id": "http://reg.genome.network/allele/PA2828145886", "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351279.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523823" }, { "@id": "http://reg.genome.network/allele/PA2828146144", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364352.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351281.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351281.1:p.Glu74_Cys378delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523824" }, { "@id": "http://reg.genome.network/allele/PA2828146579", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351283.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351283.1:p.Glu74_Cys340delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523826" }, { "@id": "http://reg.genome.network/allele/PA2828146818", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.1:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351284.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351284.1:p.Glu74_Cys340delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523827" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_005248511.3:c.220G>T" ], "proteinEffect": { "hgvs": "XP_005248568.1:p.Glu74Ter", "hgvsWellDefined": "XP_005248568.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533089" }, { "coordinates": [ { "allele": "T", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_006714625.4:c.220G>T" ], "proteinEffect": { "hgvs": "XP_006714688.1:p.Glu74Ter", "hgvsWellDefined": "XP_006714688.1:p.Glu74_Thr483delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538758" }, { "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543396.3:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541698.1:p.Glu74Ter", "hgvsWellDefined": "XP_011541698.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555212" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_011543397.3:c.220G>T" ], "proteinEffect": { "hgvs": "XP_011541699.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579742" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446056.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_024301824.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579743" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "G", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446057.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_024301825.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579744" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "G", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446058.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_024301826.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579745" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "XM_024446059.1:c.220G>T" ], "proteinEffect": { "hgvs": "XP_024301827.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS579746" }, { "@id": "http://reg.genome.network/allele/PA2826180294", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193350.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180279.1:p.Glu74Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS679204" }, { "@id": "http://reg.genome.network/allele/PA2826918502", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001308002.3:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001294931.1:p.Glu74Ter", "hgvsWellDefined": "NP_001294931.1:p.Glu74_Thr465delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683897" }, { "@id": "http://reg.genome.network/allele/PA2828139943", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364329.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351258.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351258.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690869" }, { "@id": "http://reg.genome.network/allele/PA2828140245", "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364330.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351259.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351259.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690870" }, { "@id": "http://reg.genome.network/allele/PA2828140547", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364331.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351260.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351260.1:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690871" }, { "@id": "http://reg.genome.network/allele/PA2828141123", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364333.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351262.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351262.1:p.Glu74_Thr465delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690872" }, { "@id": "http://reg.genome.network/allele/PA2828142858", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364339.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351268.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351268.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690873" }, { "@id": "http://reg.genome.network/allele/PA2828144309", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364344.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351273.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351273.1:p.Glu74_Thr425delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690874" }, { "@id": "http://reg.genome.network/allele/PA2828144588", "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364345.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351274.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351274.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690875" }, { "@id": "http://reg.genome.network/allele/PA2828144850", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364346.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351275.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351275.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690876" }, { "@id": "http://reg.genome.network/allele/PA2828145112", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364347.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351276.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351276.1:p.Glu74_Cys388delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690877" }, { "@id": "http://reg.genome.network/allele/PA2828145370", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364348.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351277.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351277.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690878" }, { "@id": "http://reg.genome.network/allele/PA2828145628", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364349.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351278.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351278.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690879" }, { "@id": "http://reg.genome.network/allele/PA2828146144", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364352.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351281.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351281.1:p.Glu74_Cys378delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690880" }, { "@id": "http://reg.genome.network/allele/PA2828146579", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364354.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351283.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351283.1:p.Glu74_Cys340delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690882" }, { "@id": "http://reg.genome.network/allele/PA2828146818", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364355.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351284.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351284.1:p.Glu74_Cys340delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690883" }, { "@id": "http://reg.genome.network/allele/PA2499261128", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_002397.5:c.220G>T" ], "proteinEffect": { "hgvs": "NP_002388.2:p.Glu74Ter", "hgvsWellDefined": "NP_002388.2:p.Glu74_Thr473delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAlaCysThrSerThrHisLeuSerGlnSerSerAsnLeuSerLeuProSerThrGlnSerLeuAsnIleLysSerGluProValSerProProArgAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695533", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000504921.7:c.220G>T" }, "RefSeq": { "hgvs": "NM_002397.5:c.220G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421925.5:p.Glu74Ter" }, "RefSeq": { "hgvs": "NP_002388.2:p.Glu74Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826180021", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001193349.3:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001180278.1:p.Glu74Ter", "hgvsWellDefined": "NP_001180278.1:p.Glu74_Thr393delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713731" }, { "@id": "http://reg.genome.network/allele/PA2828097913", "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001363581.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001350510.1:p.Glu74Ter", "hgvsWellDefined": "NP_001350510.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720756" }, { "@id": "http://reg.genome.network/allele/PA2828140849", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364332.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351261.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351261.1:p.Glu74_Thr393delinsProHisGluSerArgThrAsnSerAspIleValGluAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720847" }, { "@id": "http://reg.genome.network/allele/PA2828141421", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364334.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351263.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351263.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720848" }, { "@id": "http://reg.genome.network/allele/PA2828141718", "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "G", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364335.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351264.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351264.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720849" }, { "@id": "http://reg.genome.network/allele/PA2828142015", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364336.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351265.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351265.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720850" }, { "@id": "http://reg.genome.network/allele/PA2828142312", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364337.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351266.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351266.1:p.Glu74_Thr441delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValSerGluAspValAspLeuLeuLeuAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720851" }, { "@id": "http://reg.genome.network/allele/PA2828142609", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364338.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351267.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351267.1:p.Glu74_Thr451delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720852" }, { "@id": "http://reg.genome.network/allele/PA2828143151", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364340.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351269.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351269.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720853" }, { "@id": "http://reg.genome.network/allele/PA2828143444", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364341.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351270.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351270.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720854" }, { "@id": "http://reg.genome.network/allele/PA2828143737", "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364342.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351271.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351271.1:p.Glu74_Thr433delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720855" }, { "@id": "http://reg.genome.network/allele/PA2828144030", "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364343.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351272.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351272.1:p.Glu74_Thr431delinsProHisGluSerArgThrAsnSerAspIleValGluAlaLeuAsnLysLysGluAsnLysGlyCysGluSerProAspProAspSerSerTyrAlaLeuThrProArgThrGluGluLysTyrLysLysIleAsnGluGluPheAspAsnMetIleLysSerHisLysIleProAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyAspArgThrThrThrProSerArgTyrProGlnHisThrArgHisGluAlaGlyArgSerProValAspSerLeuSerSerCysSerSerSerTyrAspGlySerAspArgGluAspHisArgAsnGluPheHisSerProIleGlyLeuThrArgProSerProAspGluArgGluSerProSerValLysArgMetArgLeuSerGluGlyTrpAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720856" }, { "@id": "http://reg.genome.network/allele/PA2828145886", "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN006996", "geneNCBI_id": 4208, "geneSymbol": "MEF2C", "hgvs": [ "NM_001364350.2:c.220G>T" ], "proteinEffect": { "hgvs": "NP_001351279.1:p.Glu74Ter", "hgvsWellDefined": "NP_001351279.1:p.Glu74_Cys380delinsProHisGluSerArgThrAsnSerAspIleValGluThrLeuArgLysLysGlyLeuAsnGlyCysAspSerProAspProAspAlaAspAspSerValGlyHisSerProGluSerGluAspLysTyrArgLysIleAsnGluAspIleAspLeuMetIleSerArgGlnArgLeuCysAlaValProProProAsnPheGluMetProValSerIleProValSerSerHisAsnSerLeuValTyrSerAsnProValSerSerLeuGlyAsnProAsnLeuLeuProLeuAlaHisProSerLeuGlnArgAsnSerMetSerProGlyValThrHisArgProProSerAlaGlyAsnThrGlyGlyLeuMetGlyGlyAspLeuThrSerGlyAlaGlyThrSerAlaGlyAsnGlyTyrGlyAsnProArgAsnSerProGlyLeuLeuValSerProGlyAsnLeuAsnLysAsnMetGlnAlaLysSerProProProMetAsnLeuGlyMetAsnAsnArgLysProAspLeuArgValLeuIleProProGlySerLysAsnThrMetProSerValAsnGlnArgIleAsnAsnSerGlnSerAlaGlnSerLeuAlaThrProValValSerValAlaThrProThrLeuProGlyGlnGlyMetGlyGlyTyrProSerAlaIleSerThrThrTyrGlyThrGluTyrSerLeuSerSerAlaAspLeuSerSerLeuSerGlyPheAsnThrAlaSerAlaLeuHisLeuGlySerValThrGlyTrpGlnGlnGlnHisLeuHisAsnMetProProSerAlaLeuSerGlnLeuGlyProTyrHisHisProPheGluIleProThrThrHisAlaProArgGlyGlyGluIleSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720857" } ], "type": "nucleotide" }