{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA025106", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67007[alleleid]", "alleleId": 67007, "preferredName": "NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52339", "RCV": [ "RCV000113766", "RCV000496673", "RCV000509717", "RCV001357153" ], "variationId": 52339 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32930600C>T?assembly=hg19", "id": "chr13:g.32930600C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32356463C>T?assembly=hg38", "id": "chr13:g.32356463C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80358971", "rs": 80358971 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-32356463-C-T?dataset=gnomad_r4", "id": "13-32356463-C-T", "variant": "13:32356463 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32356463, "referenceAllele": "C", "start": 32356462 } ], "hgvs": [ "NC_000013.11:g.32356463C>T", "CM000675.2:g.32356463C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32930600, "referenceAllele": "C", "start": 32930599 } ], "hgvs": [ "NC_000013.10:g.32930600C>T", "CM000675.1:g.32930600C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 31828600, "referenceAllele": "C", "start": 31828599 } ], "hgvs": [ "NC_000013.9:g.31828600C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 45984, "referenceAllele": "C", "start": 45983 } ], "hgvs": [ "NG_012772.3:g.45984C>T", "LRG_293:g.45984C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000434898.2:p.Gln2491_Pro3200delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluArgGlnSerLeuAlaLeuSerProProGlyTrpSerThrIleAlaGlnSerArgIleThrAlaValSerAlaSerTrpAlaGlnAlaIleLeuValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914116" }, { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000528762.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000433168.2:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000433168.2:p.Gln2491_Phe2898delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValThrSerSerThrGluValLeuAsnProProLysSerSerMetArgValGlyIleAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914230" }, { "coordinates": [ { "allele": "T", "end": 7669, "referenceAllele": "C", "start": 7668 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000530893.7:c.7102C>T" ], "proteinEffect": { "hgvs": "ENSP00000499438.2:p.Gln2368Ter", "hgvsWellDefined": "ENSP00000499438.2:p.Gln2368_Ile3295delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914239" }, { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000499570.2:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000499570.2:p.Gln2491_Phe2916delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValProHisGlyTrpGlyGlyLeuArgLysLeuThrIleIleValGluAspGluGlyGluAlaSerThrPhePheThrArgTrpGlnGluArgGluTyrArgGluAsnSerHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000499256.2:p.Gln2491_Ile3097delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrValSerTyrGlnTrpLysIleGluAspMetIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914441" }, { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000700202.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000514856.2:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000514856.2:p.Gln2491_Ile3401delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914479" }, { "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.8:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7471C>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.7471C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Gln2491Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Gln2491Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7570, "referenceAllele": "C", "start": 7569 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.6:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759772" }, { "coordinates": [ { "allele": "T", "end": 7471, "referenceAllele": "C", "start": 7470 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.2:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000506251.1:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000506251.1:p.Gln2491_Ala2649delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrSerCysSerGlyLeuCysValThrLeuGlnValTrpIleGlnSerLeuPheLeuGluPheGlyPheIleIleThrIleAspGlySerTyrGlyAsnTrpGlnLeuTrpAsnValProPheLeuArgAsnLeuLeuIleAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761959" }, { "coordinates": [ { "allele": "T", "end": 36, "referenceAllele": "C", "start": 35 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000665585.1:c.36C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772907" }, { "coordinates": [ { "allele": "T", "end": 7596, "referenceAllele": "C", "start": 7595 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000680887.1:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000505508.1:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000505508.1:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780501" }, { "coordinates": [ { "allele": "T", "end": 7704, "referenceAllele": "C", "start": 7703 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000380152.7:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000369497.3:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000369497.3:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247169" }, { "coordinates": [ { "allele": "T", "end": 7698, "referenceAllele": "C", "start": 7697 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000544455.5:c.7471C>T" ], "proteinEffect": { "hgvs": "ENSP00000439902.1:p.Gln2491Ter", "hgvsWellDefined": "ENSP00000439902.1:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247233" }, { "coordinates": [ { "allele": "T", "end": 7471, "referenceAllele": "C", "start": 7470 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000614259.1:n.7471C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS402107" }, { "@id": "http://reg.genome.network/allele/PA269167", "coordinates": [ { "allele": "T", "end": 7698, "referenceAllele": "C", "start": 7697 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.3:c.7471C>T", "LRG_293t1:c.7471C>T" ], "proteinEffect": { "hgvs": "NP_000050.2:p.Gln2491Ter", "hgvsWellDefined": "NP_000050.2:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006123" }, { "coordinates": [ { "allele": "T", "end": 7794, "referenceAllele": "C", "start": 7793 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535203.1:c.7471C>T" ], "proteinEffect": { "hgvs": "XP_011533505.1:p.Gln2491Ter", "hgvsWellDefined": "XP_011533505.1:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102211" }, { "coordinates": [ { "allele": "T", "end": 7608, "referenceAllele": "C", "start": 7607 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.7375C>T" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Gln2459Ter", "hgvsWellDefined": "XP_011533506.1:p.Gln2459_Ile3386delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "T", "end": 7704, "referenceAllele": "C", "start": 7703 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.7471C>T" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Gln2491Ter", "hgvsWellDefined": "XP_011533507.1:p.Gln2491_Tyr2920delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "@id": "http://reg.genome.network/allele/PA1139680674", "coordinates": [ { "allele": "T", "end": 7670, "referenceAllele": "C", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.7471C>T" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Gln2491Ter", "hgvsWellDefined": "NP_000050.3:p.Gln2491_Ile3418delinsAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrGlyLeuAlaProPheValTyrLeuSerAspGluCysTyrAsnLeuLeuAlaIleLysPheTrpIleAspLeuAsnGluAspIleIleLysProHisMetLeuIleAlaAlaSerAsnLeuGlnTrpArgProGluSerLysSerGlyLeuLeuThrLeuPheAlaGlyAspPheSerValPheSerAlaSerProLysGluGlyHisPheGlnGluThrPheAsnLysMetLysAsnThrValGluAsnIleAspIleLeuCysAsnGluAlaGluAsnLysLeuMetHisIleLeuHisAlaAsnAspProLysTrpSerThrProThrLysAspCysThrSerGlyProTyrThrAlaGlnIleIleProGlyThrGlyAsnLysLeuLeuMetSerSerProAsnCysGluIleTyrTyrGlnSerProLeuSerLeuCysMetAlaLysArgLysSerValSerThrProValSerAlaGlnMetThrSerLysSerCysLysGlyGluLysGluIleAspAspGlnLysAsnCysLysLysArgArgAlaLeuAspPheLeuSerArgLeuProLeuProProProValSerProIleCysThrPheValSerProAlaAlaGlnLysAlaPheGlnProProArgSerCysGlyThrLysTyrGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7471C>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.7471C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Gln2491Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Gln2491Ter" } } } } ], "type": "nucleotide" }