{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA025311", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46678[alleleid]", "alleleId": 46678, "preferredName": "NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38122", "RCV": [ "RCV000031704", "RCV000162936", "RCV000521372", "RCV000496960", "RCV001257551", "RCV001353730", "RCV003473212" ], "variationId": 38122 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32936711G>A?assembly=hg19", "id": "chr13:g.32936711G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32362574G>A?assembly=hg38", "id": "chr13:g.32362574G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80359011", "rs": 80359011 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32362574, "referenceAllele": "G", "start": 32362573 } ], "hgvs": [ "NC_000013.11:g.32362574G>A", "CM000675.2:g.32362574G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 32936711, "referenceAllele": "G", "start": 32936710 } ], "hgvs": [ "NC_000013.10:g.32936711G>A", "CM000675.1:g.32936711G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 31834711, "referenceAllele": "G", "start": 31834710 } ], "hgvs": [ "NC_000013.9:g.31834711G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 52095, "referenceAllele": "G", "start": 52094 } ], "hgvs": [ "NG_012772.3:g.52095G>A", "LRG_293:g.52095G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000434898.2:p.Trp2619_Pro3200delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluArgGlnSerLeuAlaLeuSerProProGlyTrpSerThrIleAlaGlnSerArgIleThrAlaValSerAlaSerTrpAlaGlnAlaIleLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000433168.2:p.Trp2619_Phe2898delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValThrSerSerThrGluValLeuAsnProProLysSerSerMetArgValGlyIleAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "A", "end": 8055, "referenceAllele": "G", "start": 8054 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.7488G>A" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Trp2496Ter", "hgvsWellDefined": "ENSP00000499438.2:p.Trp2496_Ile3295delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000499570.2:p.Trp2619_Phe2916delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValProHisGlyTrpGlyGlyLeuArgLysLeuThrIleIleValGluAspGluGlyGluAlaSerThrPhePheThrArgTrpGlnGluArgGluTyrArgGluAsnSerHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000499256.2:p.Trp2619_Ile3097delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrValSerTyrGlnTrpLysIleGluAspMetIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000514856.2:p.Trp2619_Ile3401delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.1:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000514856.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000514856.1:p.Trp108_Ile890delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911047" }, { "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7857G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.7857G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Trp2619Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Trp2619Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 7956, "referenceAllele": "G", "start": 7955 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "A", "end": 7865, "referenceAllele": "G", "start": 7864 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.7865G>A" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:p.Gly2622Glu", "hgvsWellDefined": "ENSP00000506251.1:p.Gly2622Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.422G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "A", "end": 7982, "referenceAllele": "G", "start": 7981 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000505508.1:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "A", "end": 8090, "referenceAllele": "G", "start": 8089 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "A", "end": 8084, "referenceAllele": "G", "start": 8083 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.7857G>A" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Trp2619Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "coordinates": [ { "allele": "A", "end": 7865, "referenceAllele": "G", "start": 7864 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.1:n.7865G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402107" }, { "@id": "http://reg.genome.network/allele/PA187186", "coordinates": [ { "allele": "A", "end": 8084, "referenceAllele": "G", "start": 8083 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.7857G>A", "LRG_293t1:c.7857G>A" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Trp2619Ter", "hgvsWellDefined": "NP_000050.2:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "A", "end": 8180, "referenceAllele": "G", "start": 8179 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.7857G>A" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Trp2619Ter", "hgvsWellDefined": "XP_011533505.1:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "A", "end": 7994, "referenceAllele": "G", "start": 7993 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.7761G>A" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Trp2587Ter", "hgvsWellDefined": "XP_011533506.1:p.Trp2587_Ile3386delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "A", "end": 8090, "referenceAllele": "G", "start": 8089 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.7857G>A" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Trp2619Ter", "hgvsWellDefined": "XP_011533507.1:p.Trp2619_Tyr2920delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "@id": "http://reg.genome.network/allele/PA1139681149", "coordinates": [ { "allele": "A", "end": 8056, "referenceAllele": "G", "start": 8055 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.7857G>A" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Trp2619Ter", "hgvsWellDefined": "NP_000050.3:p.Trp2619_Ile3418delinsValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7857G>A" }, "RefSeq": { "hgvs": "NM_000059.4:c.7857G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Trp2619Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Trp2619Ter" } } } } ], "type": "nucleotide" }