{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356146018", "communityStandardTitle": [ "NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1060054[alleleid]", "alleleId": 1060054, "preferredName": "NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1073162", "RCV": [ "RCV001386071" ], "variationId": 1073162 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5627555A>T?assembly=hg19", "id": "chr4:g.5627555A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5625828A>T?assembly=hg38", "id": "chr4:g.5625828A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1367694162", "rs": 1367694162 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5625828, "referenceAllele": "A", "start": 5625827 } ], "hgvs": [ "NC_000004.12:g.5625828A>T", "CM000666.2:g.5625828A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5627555, "referenceAllele": "A", "start": 5627554 } ], "hgvs": [ "NC_000004.11:g.5627555A>T", "CM000666.1:g.5627555A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5678456, "referenceAllele": "A", "start": 5678455 } ], "hgvs": [ "NC_000004.10:g.5678456A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 88721, "referenceAllele": "T", "start": 88720 } ], "hgvs": [ "NG_015821.1:g.88721T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002853" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "T", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.10:c.1967T>A" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Leu656Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Leu656_Asp1308delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.1967T>A" }, "RefSeq": { "hgvs": "NM_147127.5:c.1967T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Leu656Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Leu656Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2459, "referenceAllele": "T", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000310917.6:c.1727T>A" ], "proteinEffect": { "hgvs": "ENSP00000311683.2:p.Leu576Ter", "hgvsWellDefined": "ENSP00000311683.2:p.Leu576_Asp1228delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256435" }, { "coordinates": [ { "allele": "A", "end": 2021, "referenceAllele": "T", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.9:c.1967T>A" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Leu656Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Leu656_Asp1308delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261966" }, { "coordinates": [ { "allele": "A", "end": 2459, "referenceAllele": "T", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000475313.5:c.1727T>A" ], "proteinEffect": { "hgvs": "ENSP00000431981.1:p.Leu576Ter", "hgvsWellDefined": "ENSP00000431981.1:p.Leu576_Lys1166delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgSerGlyAsnGlnGluSerPheTrpGlnTyrLeuValGlyThrProGluIleGlyLeuIleGluTrpMetSerGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316623" }, { "coordinates": [ { "allele": "A", "end": 2060, "referenceAllele": "T", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000509670.1:c.*360T>A" ], "proteinEffect": { "hgvs": "ENSP00000423876.1:n.*360T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS340384" }, { "@id": "http://reg.genome.network/allele/PA2826025424", "coordinates": [ { "allele": "A", "end": 2459, "referenceAllele": "T", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.1:c.1727T>A" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Leu576Ter", "hgvsWellDefined": "NP_001159608.1:p.Leu576_Asp1228delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014807" }, { "@id": "http://reg.genome.network/allele/PA2499298247", "coordinates": [ { "allele": "A", "end": 2021, "referenceAllele": "T", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.4:c.1967T>A" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Leu656Ter", "hgvsWellDefined": "NP_667338.3:p.Leu656_Asp1308delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041593" }, { "coordinates": [ { "allele": "A", "end": 2029, "referenceAllele": "T", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513392.1:c.1976T>A" ], "proteinEffect": { "hgvs": "XP_011511694.1:p.Leu659Ter", "hgvsWellDefined": "XP_011511694.1:p.Leu659_Asp1311delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080644" }, { "coordinates": [ { "allele": "A", "end": 2029, "referenceAllele": "T", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513393.1:c.1976T>A" ], "proteinEffect": { "hgvs": "XP_011511695.1:p.Leu659Ter", "hgvsWellDefined": "XP_011511695.1:p.Leu659_Gly1248delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgCysTyrAlaLysCysGlnThrThrValAsnCysArgGlyLysThrArgValSerGluLeuPheHisArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080645" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "T", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513394.1:c.1736T>A" ], "proteinEffect": { "hgvs": "XP_011511696.1:p.Leu579Ter", "hgvsWellDefined": "XP_011511696.1:p.Leu579_Asp1231delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080646" }, { "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "T", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007736.1:c.1727T>A" ], "proteinEffect": { "hgvs": "XP_016863225.1:p.Leu576Ter", "hgvsWellDefined": "XP_016863225.1:p.Leu576_Asp1228delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562408" }, { "coordinates": [ { "allele": "A", "end": 1897, "referenceAllele": "T", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007737.1:c.1727T>A" ], "proteinEffect": { "hgvs": "XP_016863226.1:p.Leu576Ter", "hgvsWellDefined": "XP_016863226.1:p.Leu576_Asp1228delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562409" }, { "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007738.1:c.1967T>A" ], "proteinEffect": { "hgvs": "XP_016863227.1:p.Leu656Ter", "hgvsWellDefined": "XP_016863227.1:p.Leu656_Gln1090delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562410" }, { "coordinates": [ { "allele": "A", "end": 2055, "referenceAllele": "T", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007739.1:c.287T>A" ], "proteinEffect": { "hgvs": "XP_016863228.1:p.Leu96Ter", "hgvsWellDefined": "XP_016863228.1:p.Leu96_Asp748delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562411" }, { "coordinates": [ { "allele": "A", "end": 1807, "referenceAllele": "T", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_024453893.1:c.287T>A" ], "proteinEffect": { "hgvs": "XP_024309661.1:p.Leu96Ter", "hgvsWellDefined": "XP_024309661.1:p.Leu96_Asp748delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587265" }, { "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XR_001741141.1:n.2032T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591184" }, { "@id": "http://reg.genome.network/allele/PA2499298247", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "T", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.5:c.1967T>A" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Leu656Ter", "hgvsWellDefined": "NP_667338.3:p.Leu656_Asp1308delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.1967T>A" }, "RefSeq": { "hgvs": "NM_147127.5:c.1967T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Leu656Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Leu656Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826025424", "coordinates": [ { "allele": "A", "end": 2459, "referenceAllele": "T", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.2:c.1727T>A" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Leu576Ter", "hgvsWellDefined": "NP_001159608.1:p.Leu576_Asp1228delinsAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713172" } ], "type": "nucleotide" }