{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1858090",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=94239",
        "active": true,
        "id": "COSM94239"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=284229[alleleid]",
        "alleleId": 284229,
        "preferredName": "NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/331076",
        "RCV": [
          "RCV000404854",
          "RCV001366056",
          "RCV002256208"
        ],
        "variationId": 331076
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-128017009-C-T",
        "id": "2-128017009-C-T",
        "variant": "2:128017009 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128017009C>T?assembly=hg19",
        "id": "chr2:g.128017009C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127259433C>T?assembly=hg38",
        "id": "chr2:g.127259433C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151216904",
        "rs": 151216904
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-128017009-C-T?dataset=gnomad_r2_1",
        "id": "2-128017009-C-T",
        "variant": "2:128017009 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127259433-C-T?dataset=gnomad_r3",
        "id": "2-127259433-C-T",
        "variant": "2:127259433 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127259433-C-T?dataset=gnomad_r4",
        "id": "2-127259433-C-T",
        "variant": "2:127259433 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127259433,
          "referenceAllele": "C",
          "start": 127259432
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127259433C>T",
        "CM000664.2:g.127259433C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 128017009,
          "referenceAllele": "C",
          "start": 128017008
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128017009C>T",
        "CM000664.1:g.128017009C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127733479,
          "referenceAllele": "C",
          "start": 127733478
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127733479C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39744,
          "referenceAllele": "G",
          "start": 39743
        }
      ],
      "hgvs": [
        "NG_007454.1:g.39744G>A",
        "LRG_462:g.39744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ala694Thr",
        "hgvsWellDefined": "ENSP00000285398.2:p.Ala694Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.2080G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.2080G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ala694Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ala694Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*1569G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*1569G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2836,
          "referenceAllele": "G",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*2292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*2292G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.*852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:n.*852G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1751,
          "referenceAllele": "G",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1751G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:n.1751G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2815,
          "referenceAllele": "G",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.2815G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "G",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*1547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*1547G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2218,
          "referenceAllele": "G",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.2155G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Ala719Thr",
        "hgvsWellDefined": "ENSP00000495619.1:p.Ala719Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 1830,
          "referenceAllele": "G",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.396-1831G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "G",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Ala694Thr",
        "hgvsWellDefined": "ENSP00000285398.2:p.Ala694Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*2061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*2061G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2352,
          "referenceAllele": "G",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*2123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*2123G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3450,
          "referenceAllele": "G",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000491292.5:n.3450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645450124",
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "G",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.2080G>A",
        "LRG_462t1:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ala694Thr",
        "hgvsWellDefined": "NP_000113.1:p.Ala694Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882584",
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.1888G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ala630Thr",
        "hgvsWellDefined": "NP_001290345.1:p.Ala630Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882908",
      "coordinates": [
        {
          "allele": "A",
          "end": 2352,
          "referenceAllele": "G",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.1888G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ala630Thr",
        "hgvsWellDefined": "NP_001290347.1:p.Ala630Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "G",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.2098G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ala700Thr",
        "hgvsWellDefined": "XP_011509096.1:p.Ala700Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.1642G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Ala548Thr",
        "hgvsWellDefined": "XP_011509097.1:p.Ala548Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.2098G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Ala700Thr",
        "hgvsWellDefined": "XP_011509096.1:p.Ala700Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Ala542Thr",
        "hgvsWellDefined": "XP_016859072.1:p.Ala542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645450124",
      "coordinates": [
        {
          "allele": "A",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Ala694Thr",
        "hgvsWellDefined": "NP_000113.1:p.Ala694Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.2080G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.2080G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Ala694Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Ala694Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882584",
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "G",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.1888G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Ala630Thr",
        "hgvsWellDefined": "NP_001290345.1:p.Ala630Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882908",
      "coordinates": [
        {
          "allele": "A",
          "end": 2402,
          "referenceAllele": "G",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1888G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Ala630Thr",
        "hgvsWellDefined": "NP_001290347.1:p.Ala630Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}