{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406374137",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.775T>A (p.Cys259Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45867533A>T?assembly=hg19",
        "id": "chr19:g.45867533A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45364275A>T?assembly=hg38",
        "id": "chr19:g.45364275A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45364275,
          "referenceAllele": "A",
          "start": 45364274
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45364275A>T",
        "CM000681.2:g.45364275A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45867533,
          "referenceAllele": "A",
          "start": 45867532
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45867533A>T",
        "CM000681.1:g.45867533A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50559373,
          "referenceAllele": "A",
          "start": 50559372
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50559373A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11313,
          "referenceAllele": "T",
          "start": 11312
        }
      ],
      "hgvs": [
        "NG_007067.2:g.11313T>A",
        "LRG_461:g.11313T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:p.Cys259Ser",
        "hgvsWellDefined": "ENSP00000375808.4:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Cys259Ser",
        "hgvsWellDefined": "ENSP00000507019.1:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "referenceAllele": "T",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.804T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "T",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*33T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*33T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "T",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.652T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Cys218Ser",
        "hgvsWellDefined": "ENSP00000507775.1:p.Cys218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:p.Cys259Ser",
        "hgvsWellDefined": "ENSP00000508260.1:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Cys259Ser",
        "hgvsWellDefined": "ENSP00000375809.4:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.775T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.775T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Cys259Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Cys259Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586131.6:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464887.1:p.Cys235Ser",
        "hgvsWellDefined": "ENSP00000464887.1:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.872T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:p.Cys235Ser",
        "hgvsWellDefined": "ENSP00000375805.2:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "T",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.541T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:p.Cys181Ser",
        "hgvsWellDefined": "ENSP00000375808.3:p.Cys181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "T",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Cys259Ser",
        "hgvsWellDefined": "ENSP00000375809.3:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000485403.6:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431229.2:p.Cys235Ser",
        "hgvsWellDefined": "ENSP00000431229.2:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586131.5:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464887.1:p.Cys235Ser",
        "hgvsWellDefined": "ENSP00000464887.1:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586441.1:n.643T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "T",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586737.5:n.412T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000591309.5:c.*33T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465207.1:n.*33T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085987156",
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.775T>A",
        "LRG_461t1:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Cys259Ser",
        "hgvsWellDefined": "NP_000391.1:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.1:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Cys235Ser",
        "hgvsWellDefined": "NP_001124339.1:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "T",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.697T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Cys233Ser",
        "hgvsWellDefined": "XP_011524913.1:p.Cys233Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.822T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 804,
          "referenceAllele": "T",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.697T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Cys233Ser",
        "hgvsWellDefined": "XP_011524913.1:p.Cys233Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "T",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.652T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Cys218Ser",
        "hgvsWellDefined": "XP_016881956.1:p.Cys218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.822T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.822T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085987156",
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.775T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Cys259Ser",
        "hgvsWellDefined": "NP_000391.1:p.Cys259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.775T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.775T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Cys259Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Cys259Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.703T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Cys235Ser",
        "hgvsWellDefined": "NP_001124339.1:p.Cys235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}