{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338394535",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.1119-317A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/238403",
        "rs": 238403
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45361959,
          "referenceAllele": "T",
          "start": 45361958
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45361959T=",
        "CM000681.2:g.45361959T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45865217,
          "referenceAllele": "T",
          "start": 45865216
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45865217T=",
        "CM000681.1:g.45865217T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50557057,
          "referenceAllele": "T",
          "start": 50557056
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50557057T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13629,
          "referenceAllele": "A",
          "start": 13628
        }
      ],
      "hgvs": [
        "NG_007067.2:g.13629A=",
        "LRG_461:g.13629A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1166,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1166,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.1148-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*377-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*377-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1066,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.996-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:n.996-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1166,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1119-317A="
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1119-317A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:n.1119-317A="
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:n.1119-317A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.6:c.242-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.1216-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1799,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1799,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.1047-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:n.1047-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 931,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.885-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:n.885-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1265,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000485403.6:c.1047-317A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431229.2:n.1047-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.5:c.242-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.1119-317A=",
        "LRG_461t1:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1468,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.1:c.1047-317A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:n.1047-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.1041-317A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:n.1041-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.1166-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.1041-317A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:n.1041-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1061,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.996-317A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:n.996-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.1166-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.1166-317A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.1119-317A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:n.1119-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1119-317A="
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1119-317A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:n.1119-317A="
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:n.1119-317A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "A",
          "start": 1454,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.1047-317A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:n.1047-317A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}