{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10264898",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5019910"
      },
      {
        "active": false,
        "id": "COSM5019911"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=507605[alleleid]",
        "alleleId": 507605,
        "preferredName": "NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/513099",
        "RCV": [
          "RCV000600041",
          "RCV001028790",
          "RCV003457727"
        ],
        "variationId": 513099
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-42524310-C-A",
        "id": "22-42524310-C-A",
        "variant": "22:42524310 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42524310C>A?assembly=hg19",
        "id": "chr22:g.42524310C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42128308C>A?assembly=hg38",
        "id": "chr22:g.42128308C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28371717",
        "rs": 28371717
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42524310-C-A?dataset=gnomad_r2_1",
        "id": "22-42524310-C-A",
        "variant": "22:42524310 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42128308-C-A?dataset=gnomad_r3",
        "id": "22-42128308-C-A",
        "variant": "22:42128308 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42128308-C-A?dataset=gnomad_r4",
        "id": "22-42128308-C-A",
        "variant": "22:42128308 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42128308,
          "referenceAllele": "C",
          "start": 42128307
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42128308C>A",
        "CM000684.2:g.42128308C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42524310,
          "referenceAllele": "C",
          "start": 42524309
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42524310C>A",
        "CM000684.1:g.42524310C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40854254,
          "referenceAllele": "C",
          "start": 40854253
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40854254C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6684,
          "referenceAllele": "G",
          "start": 6683
        }
      ],
      "hgvs": [
        "NG_008376.3:g.6684G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7503,
          "referenceAllele": "G",
          "start": 7502
        }
      ],
      "hgvs": [
        "NG_008376.4:g.7503G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:p.Ala186Ser",
        "hgvsWellDefined": "ENSP00000353241.6:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Ala237Ser",
        "hgvsWellDefined": "ENSP00000496150.1:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.709G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.709G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Ala237Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Ala237Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Ala186Ser",
        "hgvsWellDefined": "ENSP00000351927.4:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.376G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:p.Ala126Ser",
        "hgvsWellDefined": "ENSP00000353241.5:p.Ala126Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Ala237Ser",
        "hgvsWellDefined": "ENSP00000353820.5:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.643G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Ala215Ser",
        "hgvsWellDefined": "ENSP00000374620.4:p.Ala215Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1433G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804540",
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Ala237Ser",
        "hgvsWellDefined": "NP_000097.3:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340338",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Ala186Ser",
        "hgvsWellDefined": "NP_001020332.2:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Ala237Ser",
        "hgvsWellDefined": "XP_011528268.1:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Ala237Ser",
        "hgvsWellDefined": "XP_011528269.1:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Ala237Ser",
        "hgvsWellDefined": "XP_011528270.1:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Ala189Ser",
        "hgvsWellDefined": "XP_011528271.1:p.Ala189Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Ala186Ser",
        "hgvsWellDefined": "XP_011528272.1:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Ala189Ser",
        "hgvsWellDefined": "XP_011528273.1:p.Ala189Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:p.Ala237Ser",
        "hgvsWellDefined": "XP_011528274.1:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804540",
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.709G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Ala237Ser",
        "hgvsWellDefined": "NP_000097.3:p.Ala237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.709G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.709G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Ala237Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Ala237Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340338",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Ala186Ser",
        "hgvsWellDefined": "NP_001020332.2:p.Ala186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}