{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA025194",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46667[alleleid]",
        "alleleId": 46667,
        "preferredName": "NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38111",
        "RCV": [
          "RCV000031693",
          "RCV000166080",
          "RCV000545892",
          "RCV002265573",
          "RCV003473211",
          "RCV004532457"
        ],
        "variationId": 38111
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32931879C>A?assembly=hg19",
        "id": "chr13:g.32931879C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32357742C>A?assembly=hg38",
        "id": "chr13:g.32357742C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397507390",
        "rs": 397507390
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32357742-C-A?dataset=gnomad_r3",
        "id": "13-32357742-C-A",
        "variant": "13:32357742 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32357742-C-A?dataset=gnomad_r4",
        "id": "13-32357742-C-A",
        "variant": "13:32357742 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32357742,
          "referenceAllele": "C",
          "start": 32357741
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32357742C>A",
        "CM000675.2:g.32357742C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32931879,
          "referenceAllele": "C",
          "start": 32931878
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32931879C>A",
        "CM000675.1:g.32931879C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 31829879,
          "referenceAllele": "C",
          "start": 31829878
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31829879C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47263,
          "referenceAllele": "C",
          "start": 47262
        }
      ],
      "hgvs": [
        "NG_012772.3:g.47263C>A",
        "LRG_293:g.47263C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000434898.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000433168.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7816,
          "referenceAllele": "C",
          "start": 7815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.7249C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Leu2417Met",
        "hgvsWellDefined": "ENSP00000499438.2:p.Leu2417Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000499570.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000499256.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000514856.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.85C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Leu29Met",
        "hgvsWellDefined": "ENSP00000514856.1:p.Leu29Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.7618C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.7618C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu2540Met"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu2540Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7717,
          "referenceAllele": "C",
          "start": 7716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7618,
          "referenceAllele": "C",
          "start": 7617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000506251.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.183C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7743,
          "referenceAllele": "C",
          "start": 7742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000505508.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7851,
          "referenceAllele": "C",
          "start": 7850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7845,
          "referenceAllele": "C",
          "start": 7844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu2540Met",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7618,
          "referenceAllele": "C",
          "start": 7617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.1:n.7618C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA194942",
      "coordinates": [
        {
          "allele": "A",
          "end": 7845,
          "referenceAllele": "C",
          "start": 7844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.7618C>A",
        "LRG_293t1:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Leu2540Met",
        "hgvsWellDefined": "NP_000050.2:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7941,
          "referenceAllele": "C",
          "start": 7940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Leu2540Met",
        "hgvsWellDefined": "XP_011533505.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7755,
          "referenceAllele": "C",
          "start": 7754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.7522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Leu2508Met",
        "hgvsWellDefined": "XP_011533506.1:p.Leu2508Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7851,
          "referenceAllele": "C",
          "start": 7850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:p.Leu2540Met",
        "hgvsWellDefined": "XP_011533507.1:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573058329",
      "coordinates": [
        {
          "allele": "A",
          "end": 7817,
          "referenceAllele": "C",
          "start": 7816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.7618C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Leu2540Met",
        "hgvsWellDefined": "NP_000050.3:p.Leu2540Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.7618C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.7618C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu2540Met"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu2540Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}