{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360002247", "communityStandardTitle": [ "NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832772[alleleid]", "alleleId": 2832772, "preferredName": "NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676474", "RCV": [ "RCV003470071" ], "variationId": 2676474 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.70883352C>T?assembly=hg19", "id": "chr5:g.70883352C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.71587525C>T?assembly=hg38", "id": "chr5:g.71587525C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1413464990", "rs": 1413464990 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-70883352-C-T?dataset=gnomad_r2_1", "id": 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"ENSP00000420994.3:p.Gln34_Cys357delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyHisCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825550" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000510895.7:n.223C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825572" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000629193.3:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000486535.2:p.Gln34Ter", "hgvsWellDefined": "ENSP00000486535.2:p.Gln34_Asn325delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysValLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826618" }, { "coordinates": [ { "allele": "T", "end": 165, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "C", "start": 165, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000681968.1:c.-265+83C>T" ], "proteinEffect": { "hgvs": "ENSP00000508143.1:n.-265+83C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826968" }, { "coordinates": [ { "allele": "T", "end": 64, "endIntronDirection": "+", "endIntronOffset": 675, "referenceAllele": "C", "start": 64, "startIntronDirection": "+", "startIntronOffset": 674 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682045.1:c.-16+675C>T" ], "proteinEffect": { "hgvs": "ENSP00000507329.1:n.-16+675C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827043" }, { "coordinates": [ { "allele": "T", "end": 106, "endIntronDirection": "+", "endIntronOffset": 675, "referenceAllele": "C", "start": 106, "startIntronDirection": "+", "startIntronOffset": 674 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682214.1:c.-198+675C>T" ], "proteinEffect": { "hgvs": "ENSP00000507336.1:n.-198+675C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827210" }, { "coordinates": [ { "allele": "T", "end": 950, "endIntronDirection": "+", "endIntronOffset": 4952, "referenceAllele": "C", "start": 950, "startIntronDirection": "+", "startIntronOffset": 4951 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682499.1:n.950+4952C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827489" }, { "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "C", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682541.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507673.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507673.1:p.Gln34_Gln342delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluAspLeuLeuGluTyrLeuGlyThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827531" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682687.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507945.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507945.1:p.Gln34_Thr367delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysProLeuGluLysHisLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827676" }, { "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "C", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682727.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507393.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507393.1:p.Gln34_Met560delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827716" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000682876.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000508389.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000508389.1:p.Gln34_Met606delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuHisValIleGluTyrSerLysMetAsnLysSerGlnPheLeuProProArgAsnSerGlnHisArgGlyAspAspArgHisAsnMetHisIleThrGluLeuHisSerAspThrCysArgValGlyGlyValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827864" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683098.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507670.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507670.1:p.Gln34_Arg321delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgValLeuThrLeuSerSerTyrAlaAlaLysGluIlePheLeuCysCysSerPheLysThrLeuLeuAspLeuTrpLeuValGluSerMetLysLeuLysGluLeuProArgMetValProArgTrpTrpProLeuTrpProValProLysCysLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828083" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683258.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507448.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507448.1:p.Gln34_Ser68delinsProAspLeuGlySerAlaLeuTyrGlnGluValValArgLysProGluHisPheThrTyrGlnGluGluAsnTyrCysProGluLysGluLeuThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828240" }, { "coordinates": [ { "allele": "T", "end": 156, "referenceAllele": "C", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683339.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507758.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507758.1:p.Gln34_Met491delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828320" }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683403.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507896.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507896.1:p.Gln34_Met533delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828381" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "+", "endIntronOffset": 83, "referenceAllele": "C", "start": 109, "startIntronDirection": "+", "startIntronOffset": 82 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683429.1:c.-265+83C>T" ], "proteinEffect": { "hgvs": "ENSP00000507697.1:n.-265+83C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828406" }, { "coordinates": [ { "allele": "T", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683665.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507068.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507068.1:p.Gln34_Asn363delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysValLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828636" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683789.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507012.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507012.1:p.Gln34_Met525delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828760" }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000683882.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000506735.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000506735.1:p.Gln34_Leu368delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrAlaLeuGlyLysAlaGlnAspIleAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828849" }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000684024.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000507175.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000507175.1:p.Gln34_Ile58delinsProAspLeuGlySerAlaLeuTyrGlnValSerIleSerGlyIleIleProValCysArgLeuProValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828985" }, { "coordinates": [ { "allele": "T", "end": 223, "referenceAllele": "C", "start": 222 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000684254.1:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000508001.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000508001.1:p.Gln34_Ser68delinsProAspLeuGlySerAlaLeuTyrGlnGluValValArgLysProGluHisPheThrTyrGlnGluGluAsnTyrCysProGluLysGluLeuThrIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829211" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000340941.11:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000343657.6:p.Gln34Ter", "hgvsWellDefined": "ENSP00000343657.6:p.Gln34_Met563delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340941.11:c.100C>T" }, "RefSeq": { "hgvs": "NM_022132.5:c.100C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343657.6:p.Gln34Ter" }, "RefSeq": { "hgvs": "NP_071415.1:p.Gln34Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000340941.10:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000343657.6:p.Gln34Ter", "hgvsWellDefined": "ENSP00000343657.6:p.Gln34_Met563delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261216" }, { "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000509358.6:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000420994.2:p.Gln34Ter", "hgvsWellDefined": "ENSP00000420994.2:p.Gln34_Asn363delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysValLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340140" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000512218.6:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000423202.2:p.Gln34Ter", "hgvsWellDefined": "ENSP00000423202.2:p.Gln34_Thr329delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysProLeuGluLysHisLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342302" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "ENST00000629193.2:c.100C>T" ], "proteinEffect": { "hgvs": "ENSP00000486535.1:p.Gln34Ter", "hgvsWellDefined": "ENSP00000486535.1:p.Gln34_Thr329delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysProLeuGluLysHisLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407180" }, { "@id": "http://reg.genome.network/allele/PA2741975510", "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "NM_022132.4:c.100C>T" ], "proteinEffect": { "hgvs": "NP_071415.1:p.Gln34Ter", "hgvsWellDefined": "NP_071415.1:p.Gln34_Met563delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037225" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XM_005248567.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_005248624.1:p.Gln34Ter", "hgvsWellDefined": "XP_005248624.1:p.Gln34_Met525delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058491" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XM_011543528.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_011541830.1:p.Gln34Ter", "hgvsWellDefined": "XP_011541830.1:p.Gln34_Leu368delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrAlaLeuGlyLysAlaGlnAspIleAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110446" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XM_011543529.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_011541831.1:p.Gln34Ter", "hgvsWellDefined": "XP_011541831.1:p.Gln34_Glu363delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyLysGluValLysAsnAsnSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110447" }, { "@id": "http://reg.genome.network/allele/PA2828079848", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "NM_001363147.1:c.100C>T" ], "proteinEffect": { "hgvs": "NP_001350076.1:p.Gln34Ter", "hgvsWellDefined": "NP_001350076.1:p.Gln34_Met525delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523195" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XM_011543529.2:c.100C>T" ], "proteinEffect": { "hgvs": "XP_011541831.1:p.Gln34Ter", "hgvsWellDefined": "XP_011541831.1:p.Gln34_Glu363delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyLysGluValLysAsnAsnSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555254" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XM_017009688.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_016865177.1:p.Gln34Ter", "hgvsWellDefined": "XP_016865177.1:p.Gln34_Leu365delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisAlaLeuGlyLysAlaGlnAspIleAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563924" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "XR_001742172.1:n.140C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591972" }, { "@id": "http://reg.genome.network/allele/PA2741975510", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006937", "geneNCBI_id": 64087, "geneSymbol": "MCCC2", "hgvs": [ "NM_022132.5:c.100C>T" ], "proteinEffect": { "hgvs": "NP_071415.1:p.Gln34Ter", "hgvsWellDefined": "NP_071415.1:p.Gln34_Met563delinsProAspLeuGlySerAlaLeuTyrGlnGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000340941.11:c.100C>T" }, "RefSeq": { "hgvs": "NM_022132.5:c.100C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000343657.6:p.Gln34Ter" }, "RefSeq": { "hgvs": "NP_071415.1:p.Gln34Ter" } } } } ], "type": "nucleotide" }