{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13675554",
  "communityStandardTitle": [
    "NM_000690.4(ALDH2):c.682-261T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.112228849T>C?assembly=hg19",
        "id": "chr12:g.112228849T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.111791045T>C?assembly=hg38",
        "id": "chr12:g.111791045T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/441",
        "rs": 441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-112228849-T-C?dataset=gnomad_r2_1",
        "id": "12-112228849-T-C",
        "variant": "12:112228849 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-111791045-T-C?dataset=gnomad_r3",
        "id": "12-111791045-T-C",
        "variant": "12:111791045 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-111791045-T-C?dataset=gnomad_r4",
        "id": "12-111791045-T-C",
        "variant": "12:111791045 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 111791045,
          "referenceAllele": "T",
          "start": 111791044
        }
      ],
      "hgvs": [
        "NC_000012.12:g.111791045T>C",
        "CM000674.2:g.111791045T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 112228849,
          "referenceAllele": "T",
          "start": 112228848
        }
      ],
      "hgvs": [
        "NC_000012.11:g.112228849T>C",
        "CM000674.1:g.112228849T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 110713232,
          "referenceAllele": "T",
          "start": 110713231
        }
      ],
      "hgvs": [
        "NC_000012.10:g.110713232T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29504,
          "referenceAllele": "T",
          "start": 29503
        }
      ],
      "hgvs": [
        "NG_012250.1:g.29504T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29159,
          "referenceAllele": "T",
          "start": 29158
        }
      ],
      "hgvs": [
        "NG_012250.2:g.29159T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706110"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 731,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "ENST00000261733.7:c.682-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261733.2:n.682-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261733.7:c.682-261T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000690.4:c.682-261T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261733.2:n.682-261T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000681.2:n.682-261T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "hgvs": [
        "ENST00000546840.3:c.672-261T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "ENST00000261733.6:c.682-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261733.2:n.682-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "ENST00000416293.7:c.541-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403349.3:n.541-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "hgvs": [
        "ENST00000546840.2:c.667-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450353.3:n.667-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "ENST00000548536.1:c.*558-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448179.1:n.*558-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "NM_000690.3:c.682-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000681.2:n.682-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "NM_001204889.1:c.541-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191818.1:n.541-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 731,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "NM_000690.4:c.682-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000681.2:n.682-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261733.7:c.682-261T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000690.4:c.682-261T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261733.2:n.682-261T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000681.2:n.682-261T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000404",
      "geneNCBI_id": 217,
      "geneSymbol": "ALDH2",
      "hgvs": [
        "NM_001204889.2:c.541-261T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191818.1:n.541-261T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679889"
    }
  ],
  "type": "nucleotide"
}