{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA025773",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67323[alleleid]",
        "alleleId": 67323,
        "preferredName": "NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52655",
        "RCV": [
          "RCV000077447",
          "RCV000131717",
          "RCV000587037",
          "RCV001175344",
          "RCV001082637",
          "RCV003607220"
        ],
        "variationId": 52655
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-32950842-C-A",
        "id": "13-32950842-C-A",
        "variant": "13:32950842 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32950842C>A?assembly=hg19",
        "id": "chr13:g.32950842C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32376705C>A?assembly=hg38",
        "id": "chr13:g.32376705C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359127",
        "rs": 80359127
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32950842-C-A?dataset=gnomad_r2_1",
        "id": "13-32950842-C-A",
        "variant": "13:32950842 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32376705-C-A?dataset=gnomad_r3",
        "id": "13-32376705-C-A",
        "variant": "13:32376705 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-32376705-C-A?dataset=gnomad_r4",
        "id": "13-32376705-C-A",
        "variant": "13:32376705 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32376705,
          "referenceAllele": "C",
          "start": 32376704
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32376705C>A",
        "CM000675.2:g.32376705C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 32950842,
          "referenceAllele": "C",
          "start": 32950841
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32950842C>A",
        "CM000675.1:g.32950842C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 31848842,
          "referenceAllele": "C",
          "start": 31848841
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31848842C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66226,
          "referenceAllele": "C",
          "start": 66225
        }
      ],
      "hgvs": [
        "NG_012772.3:g.66226C>A",
        "LRG_293:g.66226C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000434898.2:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8931,
          "referenceAllele": "C",
          "start": 8930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8866,
          "referenceAllele": "C",
          "start": 8865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.8299C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Leu2767Ile",
        "hgvsWellDefined": "ENSP00000499438.2:p.Leu2767Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9180,
          "referenceAllele": "C",
          "start": 9179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.*230C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:n.*230C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000499256.2:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000514856.2:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.1135C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Leu379Ile",
        "hgvsWellDefined": "ENSP00000514856.1:p.Leu379Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700203.1:n.795C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8668C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8668C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu2890Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu2890Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8767,
          "referenceAllele": "C",
          "start": 8766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8676,
          "referenceAllele": "C",
          "start": 8675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.8676C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.8676C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.1546C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8793,
          "referenceAllele": "C",
          "start": 8792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000505508.1:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8901,
          "referenceAllele": "C",
          "start": 8900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.1:c.230C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.1:n.230C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8895,
          "referenceAllele": "C",
          "start": 8894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu2890Ile",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168648",
      "coordinates": [
        {
          "allele": "A",
          "end": 8895,
          "referenceAllele": "C",
          "start": 8894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.8668C>A",
        "LRG_293t1:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Leu2890Ile",
        "hgvsWellDefined": "NP_000050.2:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8991,
          "referenceAllele": "C",
          "start": 8990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Leu2890Ile",
        "hgvsWellDefined": "XP_011533505.1:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8805,
          "referenceAllele": "C",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.8572C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Leu2858Ile",
        "hgvsWellDefined": "XP_011533506.1:p.Leu2858Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8901,
          "referenceAllele": "C",
          "start": 8900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:p.Leu2890Ile",
        "hgvsWellDefined": "XP_011533507.1:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573058402",
      "coordinates": [
        {
          "allele": "A",
          "end": 8867,
          "referenceAllele": "C",
          "start": 8866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.8668C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Leu2890Ile",
        "hgvsWellDefined": "NP_000050.3:p.Leu2890Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8668C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8668C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu2890Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu2890Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}