{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA031677",
  "communityStandardTitle": [
    "NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38442[alleleid]",
        "alleleId": 38442,
        "preferredName": "NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242727",
        "RCV": [
          "RCV000730269",
          "RCV003897574",
          "RCV003984832"
        ],
        "variationId": 242727
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-103701773-G-A",
        "id": "13-103701773-G-A",
        "variant": "13:103701773 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103701773G>A?assembly=hg19",
        "id": "chr13:g.103701773G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103049423G>A?assembly=hg38",
        "id": "chr13:g.103049423G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72547505",
        "rs": 72547505
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103701773-G-A?dataset=gnomad_r2_1",
        "id": "13-103701773-G-A",
        "variant": "13:103701773 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103049423-G-A?dataset=gnomad_r3",
        "id": "13-103049423-G-A",
        "variant": "13:103049423 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-103049423-G-A?dataset=gnomad_r4",
        "id": "13-103049423-G-A",
        "variant": "13:103049423 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 103049423,
          "referenceAllele": "G",
          "start": 103049422
        }
      ],
      "hgvs": [
        "NC_000013.11:g.103049423G>A",
        "CM000675.2:g.103049423G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 103701773,
          "referenceAllele": "G",
          "start": 103701772
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103701773G>A",
        "CM000675.1:g.103701773G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 102499774,
          "referenceAllele": "G",
          "start": 102499773
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102499774G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22424,
          "referenceAllele": "C",
          "start": 22423
        }
      ],
      "hgvs": [
        "NG_016648.1:g.22424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003246"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010906",
      "geneNCBI_id": 6555,
      "geneSymbol": "SLC10A2",
      "hgvs": [
        "ENST00000245312.5:c.785C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245312.3:p.Thr262Met",
        "hgvsWellDefined": "ENSP00000245312.3:p.Thr262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245312.5:c.785C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000452.3:c.785C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245312.3:p.Thr262Met"
          },
          "RefSeq": {
            "hgvs": "NP_000443.2:p.Thr262Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010906",
      "geneNCBI_id": 6555,
      "geneSymbol": "SLC10A2",
      "hgvs": [
        "ENST00000245312.4:c.785C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245312.3:p.Thr262Met",
        "hgvsWellDefined": "ENSP00000245312.3:p.Thr262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA031727",
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010906",
      "geneNCBI_id": 6555,
      "geneSymbol": "SLC10A2",
      "hgvs": [
        "NM_000452.2:c.785C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000443.1:p.Thr262Met",
        "hgvsWellDefined": "NP_000443.1:p.Thr262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966248",
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010906",
      "geneNCBI_id": 6555,
      "geneSymbol": "SLC10A2",
      "hgvs": [
        "NM_000452.3:c.785C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000443.2:p.Thr262Met",
        "hgvsWellDefined": "NP_000443.2:p.Thr262Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245312.5:c.785C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000452.3:c.785C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245312.3:p.Thr262Met"
          },
          "RefSeq": {
            "hgvs": "NP_000443.2:p.Thr262Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}