{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10589578",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=261561[alleleid]",
        "alleleId": 261561,
        "preferredName": "NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267177",
        "RCV": [
          "RCV000257043",
          "RCV000479392"
        ],
        "variationId": 267177
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32972574C>A?assembly=hg19",
        "id": "chr13:g.32972574C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32398437C>A?assembly=hg38",
        "id": "chr13:g.32398437C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4987049",
        "rs": 4987049
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32398437,
          "referenceAllele": "C",
          "start": 32398436
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32398437C>A",
        "CM000675.2:g.32398437C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32972574,
          "referenceAllele": "C",
          "start": 32972573
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32972574C>A",
        "CM000675.1:g.32972574C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 31870574,
          "referenceAllele": "C",
          "start": 31870573
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31870574C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87958,
          "referenceAllele": "C",
          "start": 87957
        }
      ],
      "hgvs": [
        "NG_012772.3:g.87958C>A",
        "LRG_293:g.87958C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10249,
          "referenceAllele": "C",
          "start": 10248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.*447C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:n.*447C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10187,
          "referenceAllele": "C",
          "start": 10186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.*1291C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:n.*1291C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10122,
          "referenceAllele": "C",
          "start": 10121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.9555C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Tyr3185Ter",
        "hgvsWellDefined": "ENSP00000499438.2:p.Tyr3185_Ile3295delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10436,
          "referenceAllele": "C",
          "start": 10435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.*1486C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:n.*1486C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10072,
          "referenceAllele": "C",
          "start": 10071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.9873C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Tyr3291Ter",
        "hgvsWellDefined": "ENSP00000514856.2:p.Tyr3291_Ile3401delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.2340C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Tyr780Ter",
        "hgvsWellDefined": "ENSP00000514856.1:p.Tyr780_Ile890delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700203.1:n.2051C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10123,
          "referenceAllele": "C",
          "start": 10122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Tyr3308Ter",
        "hgvsWellDefined": "ENSP00000369497.3:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.9924C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.9924C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Tyr3308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Tyr3308Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10023,
          "referenceAllele": "C",
          "start": 10022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Tyr3308Ter",
        "hgvsWellDefined": "ENSP00000439902.1:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9932,
          "referenceAllele": "C",
          "start": 9931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.9932C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.9932C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10049,
          "referenceAllele": "C",
          "start": 10048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Tyr3308Ter",
        "hgvsWellDefined": "ENSP00000505508.1:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10157,
          "referenceAllele": "C",
          "start": 10156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Tyr3308Ter",
        "hgvsWellDefined": "ENSP00000369497.3:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000533776.1:n.512C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10151,
          "referenceAllele": "C",
          "start": 10150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Tyr3308Ter",
        "hgvsWellDefined": "ENSP00000439902.1:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA167573",
      "coordinates": [
        {
          "allele": "A",
          "end": 10151,
          "referenceAllele": "C",
          "start": 10150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.9924C>A",
        "LRG_293t1:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Tyr3308Ter",
        "hgvsWellDefined": "NP_000050.2:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10247,
          "referenceAllele": "C",
          "start": 10246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Tyr3308Ter",
        "hgvsWellDefined": "XP_011533505.1:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10061,
          "referenceAllele": "C",
          "start": 10060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.9828C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Tyr3276Ter",
        "hgvsWellDefined": "XP_011533506.1:p.Tyr3276_Ile3386delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139684865",
      "coordinates": [
        {
          "allele": "A",
          "end": 10123,
          "referenceAllele": "C",
          "start": 10122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.9924C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Tyr3308Ter",
        "hgvsWellDefined": "NP_000050.3:p.Tyr3308_Ile3418delinsGluThrProIleLysLysLysGluLeuAsnSerProGlnMetThrProPheLysLysPheAsnGluIleSerLeuLeuGluSerAsnSerIleAlaAspGluGluLeuAlaLeuIleAsnThrGlnAlaLeuLeuSerGlySerThrGlyGluLysGlnPheIleSerValSerGluSerThrArgThrAlaProThrSerSerGluAspTyrLeuArgLeuLysArgArgCysThrThrSerLeuIleLysGluGlnGluSerSerGlnAlaSerThrGluGluCysGluLysAsnLysGlnAspThrIleThrThrLysLysTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.9924C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.9924C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Tyr3308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Tyr3308Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}