{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2082836677",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.8941G= (p.Glu2981=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139052578",
        "rs": 139052578
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886040804",
        "rs": 886040804
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32379503,
          "referenceAllele": "G",
          "start": 32379502
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32379503G=",
        "CM000675.2:g.32379503G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32953640,
          "referenceAllele": "G",
          "start": 32953639
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32953640G=",
        "CM000675.1:g.32953640G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 31851640,
          "referenceAllele": "G",
          "start": 31851639
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31851640G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69024,
          "referenceAllele": "G",
          "start": 69023
        }
      ],
      "hgvs": [
        "NG_012772.3:g.69024G=",
        "LRG_293:g.69024G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9140,
          "referenceAllele": "G",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9204,
          "referenceAllele": "G",
          "start": 9203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.*308G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:n.*308G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9139,
          "referenceAllele": "G",
          "start": 9138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.8572G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Glu2858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9453,
          "referenceAllele": "G",
          "start": 9452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.*503G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:n.*503G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9140,
          "referenceAllele": "G",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9140,
          "referenceAllele": "G",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.1408G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Glu470="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700203.1:n.1068G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9140,
          "referenceAllele": "G",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8941G="
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8941G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Glu2981="
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Glu2981="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9040,
          "referenceAllele": "G",
          "start": 9039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8949,
          "referenceAllele": "G",
          "start": 8948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.8949G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.8949G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1819,
          "referenceAllele": "G",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.1819G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9066,
          "referenceAllele": "G",
          "start": 9065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9174,
          "referenceAllele": "G",
          "start": 9173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9168,
          "referenceAllele": "G",
          "start": 9167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9168,
          "referenceAllele": "G",
          "start": 9167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.8941G=",
        "LRG_293t1:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9264,
          "referenceAllele": "G",
          "start": 9263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9078,
          "referenceAllele": "G",
          "start": 9077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.8845G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Glu2949="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8987,
          "endIntronDirection": "-",
          "endIntronOffset": 246,
          "referenceAllele": "G",
          "start": 8987,
          "startIntronDirection": "-",
          "startIntronOffset": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.8755-247G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:n.8755-247G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825026365",
      "coordinates": [
        {
          "allele": "G",
          "end": 9140,
          "referenceAllele": "G",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.8941G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Glu2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.8941G="
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.8941G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Glu2981="
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Glu2981="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}