{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2082814471",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.8485C= (p.Gln2829=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359099",
        "rs": 80359099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 32370555,
          "referenceAllele": "C",
          "start": 32370554
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32370555C=",
        "CM000675.2:g.32370555C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 32944692,
          "referenceAllele": "C",
          "start": 32944691
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32944692C=",
        "CM000675.1:g.32944692C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 31842692,
          "referenceAllele": "C",
          "start": 31842691
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31842692C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60076,
          "referenceAllele": "C",
          "start": 60075
        }
      ],
      "hgvs": [
        "NG_012772.3:g.60076C=",
        "LRG_293:g.60076C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8683,
          "referenceAllele": "C",
          "start": 8682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.8116C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Gln2706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.952C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Gln318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8485C="
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8485C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Gln2829="
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Gln2829="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8584,
          "referenceAllele": "C",
          "start": 8583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8493,
          "referenceAllele": "C",
          "start": 8492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.8493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.8493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.1050C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8610,
          "referenceAllele": "C",
          "start": 8609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8718,
          "referenceAllele": "C",
          "start": 8717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8712,
          "referenceAllele": "C",
          "start": 8711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8712,
          "referenceAllele": "C",
          "start": 8711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.8485C=",
        "LRG_293t1:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8808,
          "referenceAllele": "C",
          "start": 8807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8622,
          "referenceAllele": "C",
          "start": 8621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.8389C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Gln2797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8718,
          "referenceAllele": "C",
          "start": 8717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080627947",
      "coordinates": [
        {
          "allele": "C",
          "end": 8684,
          "referenceAllele": "C",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.8485C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Gln2829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8485C="
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8485C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Gln2829="
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Gln2829="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}