{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346598164",
  "communityStandardTitle": [
    "NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2956944[alleleid]",
        "alleleId": 2956944,
        "preferredName": "NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2790633",
        "RCV": [
          "RCV003607695"
        ],
        "variationId": 2790633
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31756444G>A?assembly=hg19",
        "id": "chr2:g.31756444G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.31531374G>A?assembly=hg38",
        "id": "chr2:g.31531374G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2465628821",
        "rs": 2465628821
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-31531374-G-A?dataset=gnomad_r4",
        "id": "2-31531374-G-A",
        "variant": "2:31531374 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31531374,
          "referenceAllele": "G",
          "start": 31531373
        }
      ],
      "hgvs": [
        "NC_000002.12:g.31531374G>A",
        "CM000664.2:g.31531374G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31756444,
          "referenceAllele": "G",
          "start": 31756443
        }
      ],
      "hgvs": [
        "NC_000002.11:g.31756444G>A",
        "CM000664.1:g.31756444G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 31609948,
          "referenceAllele": "G",
          "start": 31609947
        }
      ],
      "hgvs": [
        "NC_000002.10:g.31609948G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54598,
          "referenceAllele": "C",
          "start": 54597
        }
      ],
      "hgvs": [
        "NG_008365.1:g.54598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001058"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.2:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:p.Gln182Ter",
        "hgvsWellDefined": "ENSP00000477587.1:p.Gln182_Phe254delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.544C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.544C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:p.Gln182Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:p.Gln182Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "ENST00000622030.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477587.1:p.Gln182Ter",
        "hgvsWellDefined": "ENSP00000477587.1:p.Gln182_Phe254delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741816197",
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.3:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:p.Gln182Ter",
        "hgvsWellDefined": "NP_000339.2:p.Gln182_Phe254delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533069.1:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531371.1:p.Gln108Ter",
        "hgvsWellDefined": "XP_011531371.1:p.Gln108_Phe180delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533070.1:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531372.1:p.Gln97Ter",
        "hgvsWellDefined": "XP_011531372.1:p.Gln97_Phe169delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533071.1:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531373.1:p.Gln97Ter",
        "hgvsWellDefined": "XP_011531373.1:p.Gln97_Phe169delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.1:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:p.Gln97Ter",
        "hgvsWellDefined": "XP_011531374.1:p.Gln97_Phe169delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533069.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531371.1:p.Gln108Ter",
        "hgvsWellDefined": "XP_011531371.1:p.Gln108_Phe180delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "XM_011533072.2:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531374.1:p.Gln97Ter",
        "hgvsWellDefined": "XP_011531374.1:p.Gln97_Phe169delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741816197",
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011285",
      "geneNCBI_id": 6716,
      "geneSymbol": "SRD5A2",
      "hgvs": [
        "NM_000348.4:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000339.2:p.Gln182Ter",
        "hgvsWellDefined": "NP_000339.2:p.Gln182_Phe254delinsGlyGlyLeuPheThrTyrValSerGlyAlaAsnPheLeuGlyGluIleIleGluTrpIleGlyTyrAlaLeuAlaThrTrpSerLeuProAlaLeuAlaPheAlaPhePheSerLeuCysPheLeuGlyLeuArgAlaPheHisHisHisArgPheTyrLeuLysMetPheGluAspTyrProLysSerArgLysAlaLeuIleProPheIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622030.2:c.544C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000348.4:c.544C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477587.1:p.Gln182Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000339.2:p.Gln182Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}