{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010315",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65714[alleleid]",
        "alleleId": 65714,
        "preferredName": "NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/51046",
        "RCV": [
          "RCV000043717",
          "RCV000112843",
          "RCV000166051",
          "RCV001284405"
        ],
        "variationId": 51046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32972770A>G?assembly=hg19",
        "id": "chr13:g.32972770A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32398633A>G?assembly=hg38",
        "id": "chr13:g.32398633A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358395",
        "rs": 80358395
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32398633-A-G?dataset=gnomad_r4",
        "id": "13-32398633-A-G",
        "variant": "13:32398633 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32398633,
          "referenceAllele": "A",
          "start": 32398632
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32398633A>G",
        "CM000675.2:g.32398633A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32972770,
          "referenceAllele": "A",
          "start": 32972769
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32972770A>G",
        "CM000675.1:g.32972770A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 31870770,
          "referenceAllele": "A",
          "start": 31870769
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31870770A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88154,
          "referenceAllele": "A",
          "start": 88153
        }
      ],
      "hgvs": [
        "NG_012772.3:g.88154A>G",
        "LRG_293:g.88154A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10445,
          "referenceAllele": "A",
          "start": 10444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.*643A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:n.*643A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10383,
          "referenceAllele": "A",
          "start": 10382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.*1487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:n.*1487A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10318,
          "referenceAllele": "A",
          "start": 10317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.9751A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Thr3251Ala",
        "hgvsWellDefined": "ENSP00000499438.2:p.Thr3251Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10632,
          "referenceAllele": "A",
          "start": 10631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.*1682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:n.*1682A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10268,
          "referenceAllele": "A",
          "start": 10267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.10069A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Thr3357Ala",
        "hgvsWellDefined": "ENSP00000514856.2:p.Thr3357Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2536,
          "referenceAllele": "A",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.2536A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Thr846Ala",
        "hgvsWellDefined": "ENSP00000514856.1:p.Thr846Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2247,
          "referenceAllele": "A",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700203.1:n.2247A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10319,
          "referenceAllele": "A",
          "start": 10318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Thr3374Ala",
        "hgvsWellDefined": "ENSP00000369497.3:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.10120A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.10120A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Thr3374Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Thr3374Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10219,
          "referenceAllele": "A",
          "start": 10218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Thr3374Ala",
        "hgvsWellDefined": "ENSP00000439902.1:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10128,
          "referenceAllele": "A",
          "start": 10127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.10128A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.10128A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10245,
          "referenceAllele": "A",
          "start": 10244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Thr3374Ala",
        "hgvsWellDefined": "ENSP00000505508.1:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10353,
          "referenceAllele": "A",
          "start": 10352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Thr3374Ala",
        "hgvsWellDefined": "ENSP00000369497.3:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10347,
          "referenceAllele": "A",
          "start": 10346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Thr3374Ala",
        "hgvsWellDefined": "ENSP00000439902.1:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194872",
      "coordinates": [
        {
          "allele": "G",
          "end": 10347,
          "referenceAllele": "A",
          "start": 10346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.10120A>G",
        "LRG_293t1:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Thr3374Ala",
        "hgvsWellDefined": "NP_000050.2:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10443,
          "referenceAllele": "A",
          "start": 10442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Thr3374Ala",
        "hgvsWellDefined": "XP_011533505.1:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10257,
          "referenceAllele": "A",
          "start": 10256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.10024A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Thr3342Ala",
        "hgvsWellDefined": "XP_011533506.1:p.Thr3342Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573059927",
      "coordinates": [
        {
          "allele": "G",
          "end": 10319,
          "referenceAllele": "A",
          "start": 10318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.10120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Thr3374Ala",
        "hgvsWellDefined": "NP_000050.3:p.Thr3374Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.10120A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.10120A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Thr3374Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Thr3374Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}