{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007392",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196700[alleleid]",
        "alleleId": 196700,
        "preferredName": "NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201324",
        "RCV": [
          "RCV000182810",
          "RCV002516898"
        ],
        "variationId": 201324
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947280C>T?assembly=hg19",
        "id": "chr1:g.237947280C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237783980C>T?assembly=hg38",
        "id": "chr1:g.237783980C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728782",
        "rs": 794728782
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237783980,
          "referenceAllele": "C",
          "start": 237783979
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237783980C>T",
        "CM000663.2:g.237783980C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237947280,
          "referenceAllele": "C",
          "start": 237947279
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947280C>T",
        "CM000663.1:g.237947280C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 236013903,
          "referenceAllele": "C",
          "start": 236013902
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236013903C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746579,
          "referenceAllele": "C",
          "start": 746578
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746579C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746797,
          "referenceAllele": "C",
          "start": 746796
        }
      ],
      "hgvs": [
        "NG_008799.3:g.746797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12548,
          "referenceAllele": "C",
          "start": 12547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3360C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3360C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12594,
          "referenceAllele": "C",
          "start": 12593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12256C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Pro4086Ser",
        "hgvsWellDefined": "ENSP00000499653.3:p.Pro4086Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12627,
          "referenceAllele": "C",
          "start": 12626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Pro4097Ser",
        "hgvsWellDefined": "ENSP00000499787.2:p.Pro4097Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4445,
          "referenceAllele": "C",
          "start": 4444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4445C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12606,
          "referenceAllele": "C",
          "start": 12605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Pro4090Ser",
        "hgvsWellDefined": "ENSP00000355533.2:p.Pro4090Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Pro4090Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Pro4090Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4445,
          "referenceAllele": "C",
          "start": 4444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4445C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12220,
          "referenceAllele": "C",
          "start": 12219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.12220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Pro4074Ser",
        "hgvsWellDefined": "ENSP00000353174.7:p.Pro4074Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12585,
          "referenceAllele": "C",
          "start": 12584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Pro4090Ser",
        "hgvsWellDefined": "ENSP00000355533.2:p.Pro4090Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3463,
          "referenceAllele": "C",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306928",
      "coordinates": [
        {
          "allele": "T",
          "end": 12388,
          "referenceAllele": "C",
          "start": 12387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Pro4090Ser",
        "hgvsWellDefined": "NP_001026.2:p.Pro4090Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12563,
          "referenceAllele": "C",
          "start": 12562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Pro4108Ser",
        "hgvsWellDefined": "XP_006711865.1:p.Pro4108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12560,
          "referenceAllele": "C",
          "start": 12559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Pro4107Ser",
        "hgvsWellDefined": "XP_006711866.1:p.Pro4107Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12538,
          "referenceAllele": "C",
          "start": 12537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12298C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Pro4100Ser",
        "hgvsWellDefined": "XP_006711867.1:p.Pro4100Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12528,
          "referenceAllele": "C",
          "start": 12527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12292C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Pro4098Ser",
        "hgvsWellDefined": "XP_006711868.1:p.Pro4098Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12527,
          "referenceAllele": "C",
          "start": 12526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Pro4096Ser",
        "hgvsWellDefined": "XP_006711869.1:p.Pro4096Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12503,
          "referenceAllele": "C",
          "start": 12502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Pro4088Ser",
        "hgvsWellDefined": "XP_006711870.1:p.Pro4088Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12324,
          "referenceAllele": "C",
          "start": 12323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.12085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Pro4029Ser",
        "hgvsWellDefined": "XP_006711871.1:p.Pro4029Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12469,
          "referenceAllele": "C",
          "start": 12468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Pro4077Ser",
        "hgvsWellDefined": "XP_006711873.1:p.Pro4077Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12636,
          "referenceAllele": "C",
          "start": 12635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Pro4108Ser",
        "hgvsWellDefined": "XP_006711865.1:p.Pro4108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12633,
          "referenceAllele": "C",
          "start": 12632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Pro4107Ser",
        "hgvsWellDefined": "XP_006711866.1:p.Pro4107Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12612,
          "referenceAllele": "C",
          "start": 12611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12298C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Pro4100Ser",
        "hgvsWellDefined": "XP_006711867.1:p.Pro4100Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12606,
          "referenceAllele": "C",
          "start": 12605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12292C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Pro4098Ser",
        "hgvsWellDefined": "XP_006711868.1:p.Pro4098Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12600,
          "referenceAllele": "C",
          "start": 12599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Pro4096Ser",
        "hgvsWellDefined": "XP_006711869.1:p.Pro4096Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12576,
          "referenceAllele": "C",
          "start": 12575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Pro4088Ser",
        "hgvsWellDefined": "XP_006711870.1:p.Pro4088Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12399,
          "referenceAllele": "C",
          "start": 12398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.12085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Pro4029Ser",
        "hgvsWellDefined": "XP_006711871.1:p.Pro4029Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12543,
          "referenceAllele": "C",
          "start": 12542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Pro4077Ser",
        "hgvsWellDefined": "XP_006711873.1:p.Pro4077Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12615,
          "referenceAllele": "C",
          "start": 12614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12301C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Pro4101Ser",
        "hgvsWellDefined": "XP_016857517.1:p.Pro4101Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306928",
      "coordinates": [
        {
          "allele": "T",
          "end": 12606,
          "referenceAllele": "C",
          "start": 12605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Pro4090Ser",
        "hgvsWellDefined": "NP_001026.2:p.Pro4090Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Pro4090Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Pro4090Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}