{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3505486",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=302195[alleleid]",
        "alleleId": 302195,
        "preferredName": "NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/352029",
        "RCV": [
          "RCV000292288",
          "RCV000298312",
          "RCV000343265",
          "RCV000337977",
          "RCV000400969",
          "RCV001481174"
        ],
        "variationId": 352029
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149360917-C-G",
        "id": "5-149360917-C-G",
        "variant": "5:149360917 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149360917C>G?assembly=hg19",
        "id": "chr5:g.149360917C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149981354C>G?assembly=hg38",
        "id": "chr5:g.149981354C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745590895",
        "rs": 745590895
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149360917-C-G?dataset=gnomad_r2_1",
        "id": "5-149360917-C-G",
        "variant": "5:149360917 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149981354-C-G?dataset=gnomad_r4",
        "id": "5-149981354-C-G",
        "variant": "5:149981354 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149981354,
          "referenceAllele": "C",
          "start": 149981353
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149981354C>G",
        "CM000667.2:g.149981354C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149360917,
          "referenceAllele": "C",
          "start": 149360916
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149360917C>G",
        "CM000667.1:g.149360917C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149341110,
          "referenceAllele": "C",
          "start": 149341109
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149341110C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22472,
          "referenceAllele": "C",
          "start": 22471
        }
      ],
      "hgvs": [
        "NG_007147.2:g.22472C>G",
        "LRG_684:g.22472C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "C",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.1761C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Leu587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.1761C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1761C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Leu587="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Leu587="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.1761C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Leu587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 3003,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.372+3003C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+3003C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075652",
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.1761C>G",
        "LRG_684t1:c.1761C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Leu587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.1761C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Leu587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075652",
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "C",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.1761C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Leu587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.1761C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1761C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Leu587="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Leu587="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}