{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9512800",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.2251A>T (p.Lys751Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1418450[alleleid]",
        "alleleId": 1418450,
        "preferredName": "NM_000400.4(ERCC2):c.2251A>T (p.Lys751Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1396699",
        "RCV": [
          "RCV001903124"
        ],
        "variationId": 1396699
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-45854919-T-A",
        "id": "19-45854919-T-A",
        "variant": "19:45854919 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45854919T>A?assembly=hg19",
        "id": "chr19:g.45854919T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45351661T>A?assembly=hg38",
        "id": "chr19:g.45351661T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13181",
        "rs": 13181
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45854919-T-A?dataset=gnomad_r2_1",
        "id": "19-45854919-T-A",
        "variant": "19:45854919 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45351661-T-A?dataset=gnomad_r4",
        "id": "19-45351661-T-A",
        "variant": "19:45351661 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45351661,
          "referenceAllele": "T",
          "start": 45351660
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45351661T>A",
        "CM000681.2:g.45351661T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45854919,
          "referenceAllele": "T",
          "start": 45854918
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45854919T>A",
        "CM000681.1:g.45854919T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50546759,
          "referenceAllele": "T",
          "start": 50546758
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50546759T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23927,
          "referenceAllele": "A",
          "start": 23926
        }
      ],
      "hgvs": [
        "NG_007067.2:g.23927A>T",
        "LRG_461:g.23927A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "A",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.*248A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:n.*248A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "referenceAllele": "A",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Lys751Ter",
        "hgvsWellDefined": "ENSP00000507019.1:p.Lys751_Leu760delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "A",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.2280A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "A",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684264.1:n.1807A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "A",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.2128A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Lys710Ter",
        "hgvsWellDefined": "ENSP00000507775.1:p.Lys710_Leu719delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "referenceAllele": "A",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.*737A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.*737A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1963,
          "referenceAllele": "A",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684468.1:n.1963A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "A",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Lys751Ter",
        "hgvsWellDefined": "ENSP00000375809.4:p.Lys751_Leu760delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2251A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2251A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Lys751Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Lys751Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "A",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.2348A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "A",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391942.6:n.1422A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.2017A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:p.Lys673Ter",
        "hgvsWellDefined": "ENSP00000375808.3:p.Lys673_Leu682delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "referenceAllele": "A",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Lys751Ter",
        "hgvsWellDefined": "ENSP00000375809.3:p.Lys751_Leu760delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "A",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000588652.5:n.2339A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169267",
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "A",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.2251A>T",
        "LRG_461t1:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Lys751Ter",
        "hgvsWellDefined": "NP_000391.1:p.Lys751_Leu760delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "A",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Lys725Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Lys725_Leu734delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "A",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.2173A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Lys725Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Lys725_Leu734delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2194,
          "referenceAllele": "A",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.2128A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Lys710Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Lys710_Leu719delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "A",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.2298A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169267",
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "A",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.2251A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Lys751Ter",
        "hgvsWellDefined": "NP_000391.1:p.Lys751_Leu760delinsArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2251A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2251A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Lys751Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Lys751Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}