{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216858922",
  "communityStandardTitle": [
    "NM_000773.4(CYP2E1):c.1156-118G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.135351137G>C?assembly=hg19",
        "id": "chr10:g.135351137G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.133537633G>C?assembly=hg38",
        "id": "chr10:g.133537633G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2070676",
        "rs": 2070676
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-135351137-G-C?dataset=gnomad_r2_1",
        "id": "10-135351137-G-C",
        "variant": "10:135351137 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-133537633-G-C?dataset=gnomad_r3",
        "id": "10-133537633-G-C",
        "variant": "10:133537633 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-133537633-G-C?dataset=gnomad_r4",
        "id": "10-133537633-G-C",
        "variant": "10:133537633 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 133537633,
          "referenceAllele": "G",
          "start": 133537632
        }
      ],
      "hgvs": [
        "NC_000010.11:g.133537633G>C",
        "CM000672.2:g.133537633G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 135351137,
          "referenceAllele": "G",
          "start": 135351136
        }
      ],
      "hgvs": [
        "NC_000010.10:g.135351137G>C",
        "CM000672.1:g.135351137G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 135201127,
          "referenceAllele": "G",
          "start": 135201126
        }
      ],
      "hgvs": [
        "NC_000010.9:g.135201127G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15271,
          "referenceAllele": "G",
          "start": 15270
        }
      ],
      "hgvs": [
        "NG_008383.1:g.15271G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001066"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000252945.8:c.1156-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252945.3:n.1156-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252945.8:c.1156-118G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000773.4:c.1156-118G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252945.3:n.1156-118G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000764.1:n.1156-118G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000252945.7:c.1156-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252945.3:n.1156-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1216,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000368520.1:n.1217-118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000418356.1:c.745-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397299.1:n.745-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000421586.5:c.895-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412754.1:n.895-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1427,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1427,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000463117.6:c.1156-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440689.1:n.1156-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000469258.1:n.134G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 571,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "ENST00000541080.5:c.572-118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "NM_000773.3:c.1156-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000764.1:n.1156-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 117,
          "referenceAllele": "G",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002631",
      "geneNCBI_id": 1571,
      "geneSymbol": "CYP2E1",
      "hgvs": [
        "NM_000773.4:c.1156-118G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000764.1:n.1156-118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252945.8:c.1156-118G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000773.4:c.1156-118G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252945.3:n.1156-118G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000764.1:n.1156-118G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}