{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1242197365",
  "communityStandardTitle": [
    "NM_000348.4(SRD5A2):c.694C= (p.His232=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519091",
        "rs": 1057519091
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31529311,
          "referenceAllele": "G",
          "start": 31529310
        }
      ],
      "hgvs": [
        "NC_000002.12:g.31529311G=",
        "CM000664.2:g.31529311G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31754381,
          "referenceAllele": "G",
          "start": 31754380
        }
      ],
      "hgvs": [
        "NC_000002.11:g.31754381G=",
        "CM000664.1:g.31754381G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 31607885,
          "referenceAllele": "G",
          "start": 31607884
        }
      ],
      "hgvs": [
        "NC_000002.10:g.31607885G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56661,
          "referenceAllele": "C",
          "start": 56660
        }
      ],
      "hgvs": [
        "NG_008365.1:g.56661C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001058"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.2:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:p.His232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:p.His232="
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:p.His232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:p.His232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144787",
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.3:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:p.His232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533069.1:c.472C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531371.1:p.His158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533070.1:c.439C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531372.1:p.His147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533071.1:c.439C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531373.1:p.His147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.1:c.439C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:p.His147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533069.2:c.472C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531371.1:p.His158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.2:c.439C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:p.His147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144787",
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.4:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:p.His232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:p.His232="
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:p.His232="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}