{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024619",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46632[alleleid]",
        "alleleId": 46632,
        "preferredName": "NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38076",
        "RCV": [
          "RCV000031658",
          "RCV000045095",
          "RCV000212256",
          "RCV000240678",
          "RCV000569398",
          "RCV000763325",
          "RCV000785228",
          "RCV001262534",
          "RCV003162279",
          "RCV003483441"
        ],
        "variationId": 38076
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32920978C>T?assembly=hg19",
        "id": "chr13:g.32920978C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32346841C>T?assembly=hg38",
        "id": "chr13:g.32346841C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358920",
        "rs": 80358920
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32346841-C-T?dataset=gnomad_r4",
        "id": "13-32346841-C-T",
        "variant": "13:32346841 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 32346841,
          "referenceAllele": "C",
          "start": 32346840
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32346841C>T",
        "CM000675.2:g.32346841C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 32920978,
          "referenceAllele": "C",
          "start": 32920977
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32920978C>T",
        "CM000675.1:g.32920978C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 31818978,
          "referenceAllele": "C",
          "start": 31818977
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
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          "end": 36362,
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          "start": 36361
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      ],
      "hgvs": [
        "NG_012772.3:g.36362C>T",
        "LRG_293:g.36362C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7151,
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      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.6952C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7151,
          "referenceAllele": "C",
          "start": 7150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.6952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:p.Arg2318Ter",
        "hgvsWellDefined": "ENSP00000433168.2:p.Arg2319_Phe2898delinsLeuPheMetHisHisValSerLeuGluProIleThrCysValProPheArgThrThrLysGluArgGlnGluIleGlnAsnProAsnPheThrAlaProGlyGlnGluPheLeuSerLysSerHisLeuTyrGluHisLeuThrLeuGluLysSerSerSerAsnLeuAlaValSerGlyHisProPheTyrGlnValSerAlaThrArgAsnGluLysMetArgHisLeuIleThrThrGlyArgProThrLysValPheValProProPheLysThrLysSerHisPheHisArgValGluGlnCysValArgAsnIleAsnLeuGluGluAsnArgGlnLysGlnAsnIleAspGlyHisGlySerAspAspSerLysAsnLysIleAsnAspAsnGluIleHisGlnPheAsnLysAsnAsnSerAsnGlnAlaValAlaValThrPheThrLysCysGluGluGluProLeuAspLeuIleThrSerLeuGlnAsnAlaArgAspIleGlnAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValThrSerSerThrGluValLeuAsnProProLysSerSerMetArgValGlyIleAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7150,
          "referenceAllele": "C",
          "start": 7149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.6583C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Arg2195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7151,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.6952C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:p.Arg2318Ter",
        "hgvsWellDefined": "ENSP00000499570.2:p.Arg2319_Phe2916delinsLeuPheMetHisHisValSerLeuGluProIleThrCysValProPheArgThrThrLysGluArgGlnGluIleGlnAsnProAsnPheThrAlaProGlyGlnGluPheLeuSerLysSerHisLeuTyrGluHisLeuThrLeuGluLysSerSerSerAsnLeuAlaValSerGlyHisProPheTyrGlnValSerAlaThrArgAsnGluLysMetArgHisLeuIleThrThrGlyArgProThrLysValPheValProProPheLysThrLysSerHisPheHisArgValGluGlnCysValArgAsnIleAsnLeuGluGluAsnArgGlnLysGlnAsnIleAspGlyHisGlySerAspAspSerLysAsnLysIleAsnAspAsnGluIleHisGlnPheAsnLysAsnAsnSerAsnGlnAlaValAlaValThrPheThrLysCysGluGluGluProLeuAspLeuIleThrSerLeuGlnAsnAlaArgAspIleGlnAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluValProHisGlyTrpGlyGlyLeuArgLysLeuThrIleIleValGluAspGluGlyGluAlaSerThrPhePheThrArgTrpGlnGluArgGluTyrArgGluAsnSerHisPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7151,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000499256.2:p.Arg2319_Ile3097delinsLeuPheMetHisHisValSerLeuGluProIleThrCysValProPheArgThrThrLysGluArgGlnGluIleGlnAsnProAsnPheThrAlaProGlyGlnGluPheLeuSerLysSerHisLeuTyrGluHisLeuThrLeuGluLysSerSerSerAsnLeuAlaValSerGlyHisProPheTyrGlnValSerAlaThrArgAsnGluLysMetArgHisLeuIleThrThrGlyArgProThrLysValPheValProProPheLysThrLysSerHisPheHisArgValGluGlnCysValArgAsnIleAsnLeuGluGluAsnArgGlnLysGlnAsnIleAspGlyHisGlySerAspAspSerLysAsnLysIleAsnAspAsnGluIleHisGlnPheAsnLysAsnAsnSerAsnGlnAlaValAlaValThrPheThrLysCysGluGluGluProLeuAspLeuIleThrSerLeuGlnAsnAlaArgAspIleGlnAspMetArgIleLysLysLysGlnArgGlnArgValPheProGlnProGlySerLeuTyrLeuAlaLysThrSerThrLeuProArgIleSerLeuLysAlaAlaValGlyGlyGlnValProSerAlaCysSerHisLysGlnLeuTyrThrTyrGlyValSerLysHisCysIleLysIleAsnSerLysAsnAlaGluSerPheGlnPheHisThrGluAspTyrPheGlyLysGluSerLeuTrpThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLysAlaGlyLysGluGluPheTyrArgAlaLeuCysAspThrProGlyValAspProLysLeuIleSerArgIleTrpValTyrAsnHisTyrArgTrpIleIleTrpLysLeuAlaAlaMetGluCysAlaPheProLysGluPheAlaAsnArgCysLeuSerProGluArgValLeuLeuGlnLeuLysTyrArgTyrAspThrGluIleAspArgSerArgArgSerAlaIleLysLysIleMetGluArgAspAspThrAlaAlaLysThrLeuValLeuCysValSerAspIleIleSerLeuSerAlaAsnIleSerGluThrSerSerAsnLysThrSerSerAlaAspThrGlnLysValAlaIleIleGluLeuThrAspGlyTrpTyrAlaValLysAlaGlnLeuAspProProLeuLeuAlaValLeuLysAsnGlyArgLeuThrValGlyGlnLysIleIleLeuHisGlyAlaGluLeuValGlySerProAspAlaCysThrProLeuGluAlaProGluSerLeuMetLeuLysIleSerAlaAsnSerThrArgProAlaArgTrpTyrThrLysLeuGlyPhePheProAspProArgProPheProLeuProLeuSerSerLeuPheSerAspGlyGlyAsnValGlyCysValAspValIleIleGlnArgAlaTyrProIleGlnTrpMetGluLysThrSerSerGlyLeuTyrIlePheArgAsnGluArgGluGluGluLysGluAlaAlaLysTyrValGluAlaGlnGlnLysArgLeuGluAlaLeuPheThrLysIleGlnGluGluPheGluGluHisGluGluAsnThrThrLysProTyrLeuProSerArgAlaLeuThrArgGlnGlnValArgAlaLeuGlnAspGlyAlaGluLeuTyrGluAlaValLysAsnAlaAlaAspProAlaTyrLeuGluGlyTyrPheSerGluGluGlnLeuArgAlaLeuAsnAsnHisArgGlnMetLeuAsnAspLysLysGlnAlaGlnIleGlnLeuGluIleArgLysAlaMetGluSerAlaGluGlnLysGluGlnGlyLeuSerArgAspValThrThrValTrpLysLeuArgIleValSerTyrSerLysLysGluLysAspSerValIleLeuSerIleTrpArgProSerSerAspLeuTyrSerLeuLeuThrGluGlyLysArgTyrArgIleTyrHisLeuAlaThrSerLysSerLysSerLysSerGluArgAlaAsnIleGlnLeuAlaAlaThrLysLysThrGlnTyrGlnGlnLeuProValSerAspGluIleLeuPheGlnIleTyrGlnProArgGluProLeuHisPheSerLysPheLeuAspProAspPheGlnProSerCysSerGluValAspLeuIleGlyPheValValSerValValLysLysThrValSerTyrGlnTrpLysIleGluAspMetIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7151,
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
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          "allele": "T",
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      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Arg2318Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.6952C>T"
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          "RefSeq": {
            "hgvs": "NM_000059.4:c.6952C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Arg2318Ter"
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          "RefSeq": {
            "hgvs": "NP_000050.3:p.Arg2318Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN001101",
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      "geneSymbol": "BRCA2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Arg2318Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "geneSymbol": "BRCA2",
      "hgvs": [
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  "type": "nucleotide"
}