{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA024928", "communityStandardTitle": [ "NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=66947[alleleid]", "alleleId": 66947, "preferredName": "NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52279", "RCV": [ "RCV000045156", "RCV000077398", "RCV000131033", "RCV000985577", "RCV003473397" ], "variationId": 52279 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32929170A>T?assembly=hg19", "id": "chr13:g.32929170A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.32355033A>T?assembly=hg38", "id": "chr13:g.32355033A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80358946", "rs": 80358946 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-32929170-A-T?dataset=gnomad_r2_1", "id": "13-32929170-A-T", "variant": "13:32929170 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-32355033-A-T?dataset=gnomad_r3", "id": "13-32355033-A-T", "variant": "13:32355033 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-32355033-A-T?dataset=gnomad_r4", "id": "13-32355033-A-T", "variant": "13:32355033 A / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32355033, "referenceAllele": "A", "start": 32355032 } ], "hgvs": [ "NC_000013.11:g.32355033A>T", "CM000675.2:g.32355033A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 32929170, "referenceAllele": "A", "start": 32929169 } ], "hgvs": [ "NC_000013.10:g.32929170A>T", "CM000675.1:g.32929170A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 31827170, "referenceAllele": "A", "start": 31827169 } ], "hgvs": [ "NC_000013.9:g.31827170A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 44554, "referenceAllele": "A", "start": 44553 } ], "hgvs": [ "NG_012772.3:g.44554A>T", "LRG_293:g.44554A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7379, "referenceAllele": "A", "start": 7378 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000470094.2:c.7180A>T" ], "proteinEffect": { "hgvs": "ENSP00000434898.2:p.Arg2394Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914440" }, { "coordinates": [ { "allele": "T", "end": 7379, "referenceAllele": "A", "start": 7378 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "ENST00000666593.2:c.7180A>T" ], "proteinEffect": { "hgvs": "ENSP00000499256.2:p.Arg2394Ter", "hgvsWellDefined": 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{ "coordinates": [ { "allele": "T", "end": 7317, "referenceAllele": "A", "start": 7316 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535204.1:c.7084A>T" ], "proteinEffect": { "hgvs": "XP_011533506.1:p.Arg2362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS102212" }, { "coordinates": [ { "allele": "T", "end": 7413, "referenceAllele": "A", "start": 7412 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "XM_011535205.1:c.7180A>T" ], "proteinEffect": { "hgvs": "XP_011533507.1:p.Arg2394Ter", "hgvsWellDefined": "XP_011533507.1:p.Arg2394_Tyr2920delinsHisLeuIleThrThrGlyArgProThrLysValPheValProProPheLysThrLysSerHisPheHisArgValGluGlnCysValArgAsnIleAsnLeuGluGluAsnArgGlnLysGlnAsnIleAspGlyHisGlySerAspAspSerLysAsnLysIleAsnAspAsnGluIleHisGlnPheAsnLysAsnAsnSerAsnGlnAlaValAlaValThrPheThrLysCysGluGluGluProLeuAspLeuIleThrSerLeuGlnAsnAlaArgAspIleGlnAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102213" }, { "coordinates": [ { "allele": "T", "end": 7379, "referenceAllele": "A", "start": 7378 } ], "gene": "http://reg.genome.network/gene/GN001101", "geneNCBI_id": 675, "geneSymbol": "BRCA2", "hgvs": [ "NM_000059.4:c.7180A>T" ], "proteinEffect": { "hgvs": "NP_000050.3:p.Arg2394Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS710794", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380152.8:c.7180A>T" }, "RefSeq": { "hgvs": "NM_000059.4:c.7180A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369497.3:p.Arg2394Ter" }, "RefSeq": { "hgvs": "NP_000050.3:p.Arg2394Ter" } } } } ], "type": "nucleotide" }