{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4084546",
  "communityStandardTitle": [
    "NM_003058.4(SLC22A2):c.808T>G (p.Ser270Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6354143"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-160670282-A-C",
        "id": "6-160670282-A-C",
        "variant": "6:160670282 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.160670282A>C?assembly=hg19",
        "id": "chr6:g.160670282A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.160249250A>C?assembly=hg38",
        "id": "chr6:g.160249250A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/316019",
        "rs": 316019
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160670282-A-C?dataset=gnomad_r2_1",
        "id": "6-160670282-A-C",
        "variant": "6:160670282 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160249250-A-C?dataset=gnomad_r3",
        "id": "6-160249250-A-C",
        "variant": "6:160249250 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160249250-A-C?dataset=gnomad_r4",
        "id": "6-160249250-A-C",
        "variant": "6:160249250 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 160249250,
          "referenceAllele": "A",
          "start": 160249249
        }
      ],
      "hgvs": [
        "NC_000006.12:g.160249250A>C",
        "CM000668.2:g.160249250A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 160670282,
          "referenceAllele": "A",
          "start": 160670281
        }
      ],
      "hgvs": [
        "NC_000006.11:g.160670282A>C",
        "CM000668.1:g.160670282A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 160590272,
          "referenceAllele": "A",
          "start": 160590271
        }
      ],
      "hgvs": [
        "NC_000006.10:g.160590272A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "ENST00000366953.8:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355920.3:p.Ser270Ala",
        "hgvsWellDefined": "ENSP00000355920.3:p.Ser270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366953.8:c.808T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003058.4:c.808T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355920.3:p.Ser270Ala"
          },
          "RefSeq": {
            "hgvs": "NP_003049.2:p.Ser270Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "referenceAllele": "T",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "ENST00000366952.1:c.745T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355919.1:p.Ser249Ala",
        "hgvsWellDefined": "ENSP00000355919.1:p.Ser249Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "T",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "ENST00000366953.7:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355920.3:p.Ser270Ala",
        "hgvsWellDefined": "ENSP00000355920.3:p.Ser270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "T",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "ENST00000491092.1:n.705T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124466",
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "NM_003058.3:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003049.2:p.Ser270Ala",
        "hgvsWellDefined": "NP_003049.2:p.Ser270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124466",
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010966",
      "geneNCBI_id": 6582,
      "geneSymbol": "SLC22A2",
      "hgvs": [
        "NM_003058.4:c.808T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003049.2:p.Ser270Ala",
        "hgvsWellDefined": "NP_003049.2:p.Ser270Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366953.8:c.808T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003058.4:c.808T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355920.3:p.Ser270Ala"
          },
          "RefSeq": {
            "hgvs": "NP_003049.2:p.Ser270Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}