{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2626753",
  "communityStandardTitle": [
    "NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=432290[alleleid]",
        "alleleId": 432290,
        "preferredName": "NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438675",
        "RCV": [
          "RCV000505666",
          "RCV001527659",
          "RCV002527331"
        ],
        "variationId": 438675
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-133672567-C-T",
        "id": "3-133672567-C-T",
        "variant": "3:133672567 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133672567C>T?assembly=hg19",
        "id": "chr3:g.133672567C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133953723C>T?assembly=hg38",
        "id": "chr3:g.133953723C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774795340",
        "rs": 774795340
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-133953723-C-T?dataset=gnomad_r4",
        "id": "3-133953723-C-T",
        "variant": "3:133953723 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 133953723,
          "referenceAllele": "C",
          "start": 133953722
        }
      ],
      "hgvs": [
        "NC_000003.12:g.133953723C>T",
        "CM000665.2:g.133953723C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 133672567,
          "referenceAllele": "C",
          "start": 133672566
        }
      ],
      "hgvs": [
        "NC_000003.11:g.133672567C>T",
        "CM000665.1:g.133672567C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 135155257,
          "referenceAllele": "C",
          "start": 135155256
        }
      ],
      "hgvs": [
        "NC_000003.10:g.135155257C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103462,
          "referenceAllele": "G",
          "start": 103461
        }
      ],
      "hgvs": [
        "NG_031964.2:g.103462G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103462,
          "referenceAllele": "G",
          "start": 103461
        }
      ],
      "hgvs": [
        "NG_031964.3:g.103462G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706144"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.11:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Gly222Arg",
        "hgvsWellDefined": "ENSP00000311291.4:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Gly222Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Gly222Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.8:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Gly222Arg",
        "hgvsWellDefined": "ENSP00000311291.4:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 5022,
          "referenceAllele": "G",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000462770.5:n.521-5023G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000464676.5:n.926G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000481359.3:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420028.3:p.Gly222Arg",
        "hgvsWellDefined": "ENSP00000420028.3:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000493729.5:c.436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418893.1:p.Gly146Arg",
        "hgvsWellDefined": "ENSP00000418893.1:p.Gly146Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104716",
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Gly222Arg",
        "hgvsWellDefined": "NP_005621.2:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_011513090.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511392.1:p.Gly222Arg",
        "hgvsWellDefined": "XP_011511392.1:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_017007077.1:c.160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862566.1:p.Gly54Arg",
        "hgvsWellDefined": "XP_016862566.1:p.Gly54Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_024453721.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309489.1:p.Gly222Arg",
        "hgvsWellDefined": "XP_024309489.1:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104716",
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.3:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Gly222Arg",
        "hgvsWellDefined": "NP_005621.2:p.Gly222Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Gly222Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Gly222Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}