{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388289175",
  "communityStandardTitle": [
    "NM_014953.5(DIS3):c.987+2T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4048322",
        "active": true,
        "id": "COSM4048322"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3732810[alleleid]",
        "alleleId": 3732810,
        "preferredName": "NM_014953.5(DIS3):c.987+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3600229",
        "RCV": [
          "RCV005051176"
        ],
        "variationId": 3600229
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.73349347A>G?assembly=hg19",
        "id": "chr13:g.73349347A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.72775209A>G?assembly=hg38",
        "id": "chr13:g.72775209A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 72775209,
          "referenceAllele": "A",
          "start": 72775208
        }
      ],
      "hgvs": [
        "NC_000013.11:g.72775209A>G",
        "CM000675.2:g.72775209A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 73349347,
          "referenceAllele": "A",
          "start": 73349346
        }
      ],
      "hgvs": [
        "NC_000013.10:g.73349347A>G",
        "CM000675.1:g.73349347A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 72247348,
          "referenceAllele": "A",
          "start": 72247347
        }
      ],
      "hgvs": [
        "NC_000013.9:g.72247348A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1055,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "ENST00000377767.9:c.987+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366997.4:n.987+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377767.9:c.987+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014953.5:c.987+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366997.4:n.987+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_055768.3:n.987+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1088,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "ENST00000377767.8:c.987+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366997.4:n.987+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 990,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "ENST00000377780.8:c.897+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367011.4:n.897+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1009,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "ENST00000490646.1:c.987+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436350.1:n.987+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1319,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1319,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "ENST00000545453.5:c.501+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440058.1:n.501+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1193,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001128226.2:c.897+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121698.1:n.897+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1283,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1283,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_014953.4:c.987+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055768.3:n.987+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1167,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "XM_005266294.1:c.501+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266351.1:n.501+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1150,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1150,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "XM_006719778.1:c.618+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719841.1:n.618+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1125,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001322348.1:c.618+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309277.1:n.618+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001322349.1:c.501+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309278.1:n.501+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1055,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_014953.5:c.987+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055768.3:n.987+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377767.9:c.987+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014953.5:c.987+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366997.4:n.987+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_055768.3:n.987+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 965,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001128226.3:c.897+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121698.1:n.897+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001322348.2:c.618+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309277.1:n.618+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020604",
      "geneNCBI_id": 22894,
      "geneSymbol": "DIS3",
      "hgvs": [
        "NM_001322349.2:c.501+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309278.1:n.501+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685767"
    }
  ],
  "type": "nucleotide"
}