{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024616",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96942[alleleid]",
        "alleleId": 96942,
        "preferredName": "NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/91465",
        "RCV": [
          "RCV000076982",
          "RCV000129345",
          "RCV000637516",
          "RCV000590532",
          "RCV003230397",
          "RCV003460724"
        ],
        "variationId": 91465
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-32905068-T-C",
        "id": "13-32905068-T-C",
        "variant": "13:32905068 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32905068T>C?assembly=hg19",
        "id": "chr13:g.32905068T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32330931T>C?assembly=hg38",
        "id": "chr13:g.32330931T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122572",
        "rs": 398122572
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32905068-T-C?dataset=gnomad_r2_1",
        "id": "13-32905068-T-C",
        "variant": "13:32905068 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32330931-T-C?dataset=gnomad_r3",
        "id": "13-32330931-T-C",
        "variant": "13:32330931 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32330931-T-C?dataset=gnomad_r4",
        "id": "13-32330931-T-C",
        "variant": "13:32330931 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 32330931,
          "referenceAllele": "T",
          "start": 32330930
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32330931T>C",
        "CM000675.2:g.32330931T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 32905068,
          "referenceAllele": "T",
          "start": 32905067
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32905068T>C",
        "CM000675.1:g.32905068T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 31803068,
          "referenceAllele": "T",
          "start": 31803067
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31803068T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20452,
          "referenceAllele": "T",
          "start": 20451
        }
      ],
      "hgvs": [
        "NG_012772.3:g.20452T>C",
        "LRG_293:g.20452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000434898.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000433168.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Tyr109His",
        "hgvsWellDefined": "ENSP00000499438.2:p.Tyr109His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000499570.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000499256.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000514856.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "T",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700201.1:c.*473T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514855.1:n.*473T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000369497.3:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.694T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.694T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Tyr232His"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Tyr232His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 793,
          "referenceAllele": "T",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000439902.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000506251.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000505508.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "T",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000369497.3:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.6:n.892T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "T",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Tyr232His",
        "hgvsWellDefined": "ENSP00000439902.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.1:n.694T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA164249",
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "T",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.694T>C",
        "LRG_293t1:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Tyr232His",
        "hgvsWellDefined": "NP_000050.2:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Tyr232His",
        "hgvsWellDefined": "XP_011533505.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "T",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Tyr232His",
        "hgvsWellDefined": "XP_011533506.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "T",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:p.Tyr232His",
        "hgvsWellDefined": "XP_011533507.1:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573059773",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.694T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Tyr232His",
        "hgvsWellDefined": "NP_000050.3:p.Tyr232His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.694T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.694T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Tyr232His"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Tyr232His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}