{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11224258",
  "communityStandardTitle": [
    "NM_000348.4(SRD5A2):c.281+12271C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31793419G>A?assembly=hg19",
        "id": "chr2:g.31793419G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31568349G>A?assembly=hg38",
        "id": "chr2:g.31568349G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11675297",
        "rs": 11675297
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31793419-G-A?dataset=gnomad_r2_1",
        "id": "2-31793419-G-A",
        "variant": "2:31793419 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31568349-G-A?dataset=gnomad_r3",
        "id": "2-31568349-G-A",
        "variant": "2:31568349 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31568349-G-A?dataset=gnomad_r4",
        "id": "2-31568349-G-A",
        "variant": "2:31568349 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31568349,
          "referenceAllele": "G",
          "start": 31568348
        }
      ],
      "hgvs": [
        "NC_000002.12:g.31568349G>A",
        "CM000664.2:g.31568349G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31793419,
          "referenceAllele": "G",
          "start": 31793418
        }
      ],
      "hgvs": [
        "NC_000002.11:g.31793419G>A",
        "CM000664.1:g.31793419G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31646923,
          "referenceAllele": "G",
          "start": 31646922
        }
      ],
      "hgvs": [
        "NC_000002.10:g.31646923G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17623,
          "referenceAllele": "C",
          "start": 17622
        }
      ],
      "hgvs": [
        "NG_008365.1:g.17623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001058"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 12271,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 12270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.2:c.281+12271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:n.281+12271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.281+12271C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.281+12271C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:n.281+12271C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:n.281+12271C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 12271,
          "referenceAllele": "C",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 12270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.1:c.281+12271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:n.281+12271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 12271,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 12270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.3:c.281+12271C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:n.281+12271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 12271,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 12270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533068.1:c.281+12271C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531370.1:n.281+12271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 34582,
          "referenceAllele": "C",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 34583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533070.1:c.27-34583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531372.1:n.27-34583C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 34582,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 34583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533071.1:c.27-34583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531373.1:n.27-34583C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 34582,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 34583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.1:c.27-34583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:n.27-34583C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 34582,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 34583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.2:c.27-34583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:n.27-34583C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 12271,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 12270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.4:c.281+12271C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:n.281+12271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.281+12271C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.281+12271C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:n.281+12271C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:n.281+12271C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}