{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA428609430",
  "communityStandardTitle": [
    "NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=881015[alleleid]",
        "alleleId": 881015,
        "preferredName": "NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/893872",
        "RCV": [
          "RCV001133017",
          "RCV003769258"
        ],
        "variationId": 893872
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128018882C>T?assembly=hg19",
        "id": "chr2:g.128018882C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127261306C>T?assembly=hg38",
        "id": "chr2:g.127261306C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1419254389",
        "rs": 1419254389
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127261306-C-T?dataset=gnomad_r3",
        "id": "2-127261306-C-T",
        "variant": "2:127261306 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127261306-C-T?dataset=gnomad_r4",
        "id": "2-127261306-C-T",
        "variant": "2:127261306 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127261306,
          "referenceAllele": "C",
          "start": 127261305
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127261306C>T",
        "CM000664.2:g.127261306C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 128018882,
          "referenceAllele": "C",
          "start": 128018881
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128018882C>T",
        "CM000664.1:g.128018882C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127735352,
          "referenceAllele": "C",
          "start": 127735351
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127735352C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37871,
          "referenceAllele": "G",
          "start": 37870
        }
      ],
      "hgvs": [
        "NG_007454.1:g.37871G>A",
        "LRG_462:g.37871G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "referenceAllele": "G",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.7:c.1986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Leu662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1986G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1986G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Leu662="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Leu662="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000642972.1:n.345G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1861,
          "referenceAllele": "G",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000644317.1:c.*1475G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494012.1:n.*1475G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645233.1:c.*2198G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494116.1:n.*2198G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645467.1:c.*758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494889.1:n.*758G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645504.1:c.642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1657,
          "referenceAllele": "G",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000645736.1:c.1657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494545.1:n.1657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2721,
          "referenceAllele": "G",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646042.1:n.2721G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000646654.1:c.*1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494526.1:n.*1453G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647169.1:c.2061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495619.1:p.Leu687="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 3703,
          "referenceAllele": "G",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000647496.1:c.396-3704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000285398.6:c.1986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285398.2:p.Leu662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "G",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000426778.5:c.*1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415335.1:n.*1967G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "G",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000445889.5:c.*2029G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390888.1:n.*2029G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "ENST00000491292.5:n.1577G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045537",
      "coordinates": [
        {
          "allele": "A",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.1:c.1986G>A",
        "LRG_462t1:c.1986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Leu662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882569",
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "referenceAllele": "G",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.1:c.1794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Leu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882893",
      "coordinates": [
        {
          "allele": "A",
          "end": 2258,
          "referenceAllele": "G",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.1:c.1794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Leu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.1:c.2004G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Leu668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1934,
          "referenceAllele": "G",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510795.1:c.1548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509097.1:p.Leu516="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "referenceAllele": "G",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_011510794.2:c.2004G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509096.1:p.Leu668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "XM_017003583.1:c.1530G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859072.1:p.Leu510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045537",
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "referenceAllele": "G",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Leu662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1986G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1986G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Leu662="
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Leu662="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882569",
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.1794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Leu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882893",
      "coordinates": [
        {
          "allele": "A",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Leu598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}