{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338388696",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.2150C= (p.Ala717=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144564120",
        "rs": 144564120
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 45352249,
          "referenceAllele": "G",
          "start": 45352248
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45352249G=",
        "CM000681.2:g.45352249G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 45855507,
          "referenceAllele": "G",
          "start": 45855506
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45855507G=",
        "CM000681.1:g.45855507G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50547347,
          "referenceAllele": "G",
          "start": 50547346
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50547347G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23339,
          "referenceAllele": "C",
          "start": 23338
        }
      ],
      "hgvs": [
        "NG_007067.2:g.23339C=",
        "LRG_461:g.23339C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2198,
          "referenceAllele": "C",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2198,
          "referenceAllele": "C",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "C",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.2179C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*1408C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*1408C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684264.1:n.1706C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.2027C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Ala676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.*636C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.*636C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684468.1:n.1862C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2150C="
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2150C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Ala717="
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Ala717="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.2247C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2831,
          "referenceAllele": "C",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.2078C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:p.Ala693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391942.6:n.1321C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.1916C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:p.Ala639="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "referenceAllele": "C",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000588652.5:n.2238C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160299",
      "coordinates": [
        {
          "allele": "C",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.2150C=",
        "LRG_461t1:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2178,
          "referenceAllele": "C",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.2072C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Ala691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "C",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.2072C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Ala691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.2027C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Ala676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.2197C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.2133C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160299",
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.2150C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Ala717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2150C="
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2150C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Ala717="
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Ala717="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}