{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9513333",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.1377+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1296811[alleleid]",
        "alleleId": 1296811,
        "preferredName": "NM_000400.4(ERCC2):c.1377+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1308190",
        "RCV": [
          "RCV001774101",
          "RCV003470884"
        ],
        "variationId": 1308190
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-45860730-A-G",
        "id": "19-45860730-A-G",
        "variant": "19:45860730 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45860730A>G?assembly=hg19",
        "id": "chr19:g.45860730A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45357472A>G?assembly=hg38",
        "id": "chr19:g.45357472A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201505264",
        "rs": 201505264
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45860730-A-G?dataset=gnomad_r2_1",
        "id": "19-45860730-A-G",
        "variant": "19:45860730 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45357472-A-G?dataset=gnomad_r3",
        "id": "19-45357472-A-G",
        "variant": "19:45357472 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-45357472-A-G?dataset=gnomad_r4",
        "id": "19-45357472-A-G",
        "variant": "19:45357472 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 45357472,
          "referenceAllele": "A",
          "start": 45357471
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45357472A>G",
        "CM000681.2:g.45357472A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 45860730,
          "referenceAllele": "A",
          "start": 45860729
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45860730A>G",
        "CM000681.1:g.45860730A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50552570,
          "referenceAllele": "A",
          "start": 50552569
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50552570A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18116,
          "referenceAllele": "T",
          "start": 18115
        }
      ],
      "hgvs": [
        "NG_007067.2:g.18116T>C",
        "LRG_461:g.18116T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.1406+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1301,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*635+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*635+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 933,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684264.1:n.933+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1325,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.1254+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:n.1254+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1355,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1355,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.1307+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.1307+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684468.1:n.1153+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1410,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1377+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1377+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:n.1377+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:n.1377+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.6:c.500+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1474,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.1474+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2058,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.1305+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:n.1305+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391942.6:n.548+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.1143+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:n.1143+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1455,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000587376.5:c.500+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1465,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000588652.5:n.1465+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.1377+2T>C",
        "LRG_461t1:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1405,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.1424+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1406,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.1299+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:n.1299+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.1254+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:n.1254+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.1424+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1424,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.1424+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1410,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.1377+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:n.1377+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1377+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1377+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:n.1377+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:n.1377+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}