{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA285281074",
  "communityStandardTitle": [
    "NM_002153.3(HSD17B2):c.665-9232T>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.82115275T>A?assembly=hg19",
        "id": "chr16:g.82115275T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.82081670T>A?assembly=hg38",
        "id": "chr16:g.82081670T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7201637",
        "rs": 7201637
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-82115275-T-A?dataset=gnomad_r2_1",
        "id": "16-82115275-T-A",
        "variant": "16:82115275 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-82081670-T-A?dataset=gnomad_r3",
        "id": "16-82081670-T-A",
        "variant": "16:82081670 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-82081670-T-A?dataset=gnomad_r4",
        "id": "16-82081670-T-A",
        "variant": "16:82081670 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 82081670,
          "referenceAllele": "T",
          "start": 82081669
        }
      ],
      "hgvs": [
        "NC_000016.10:g.82081670T>A",
        "CM000678.2:g.82081670T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 82115275,
          "referenceAllele": "T",
          "start": 82115274
        }
      ],
      "hgvs": [
        "NC_000016.9:g.82115275T>A",
        "CM000678.1:g.82115275T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 80672776,
          "referenceAllele": "T",
          "start": 80672775
        }
      ],
      "hgvs": [
        "NC_000016.8:g.80672776T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "ENST00000199936.9:c.665-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199936.4:n.665-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199936.9:c.665-9232T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002153.3:c.665-9232T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199936.4:n.665-9232T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002144.1:n.665-9232T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "ENST00000199936.8:c.665-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199936.4:n.665-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 292,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "ENST00000566838.2:c.293-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456471.1:n.293-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "ENST00000568090.5:c.257-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456529.1:n.257-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "NM_002153.2:c.665-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002144.1:n.665-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 8494,
          "referenceAllele": "T",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 8495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "XR_243405.2:n.853-8495T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 8494,
          "referenceAllele": "T",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 8495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "XR_001751898.2:n.814-8495T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 9231,
          "referenceAllele": "T",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 9232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005211",
      "geneNCBI_id": 3294,
      "geneSymbol": "HSD17B2",
      "hgvs": [
        "NM_002153.3:c.665-9232T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002144.1:n.665-9232T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199936.9:c.665-9232T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002153.3:c.665-9232T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199936.4:n.665-9232T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002144.1:n.665-9232T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}