{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008433",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196749[alleleid]",
        "alleleId": 196749,
        "preferredName": "NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201363",
        "RCV": [
          "RCV000182852",
          "RCV002515339"
        ],
        "variationId": 201363
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237995888T>C?assembly=hg19",
        "id": "chr1:g.237995888T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237832588T>C?assembly=hg38",
        "id": "chr1:g.237832588T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728810",
        "rs": 794728810
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237832588,
          "referenceAllele": "T",
          "start": 237832587
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237832588T>C",
        "CM000663.2:g.237832588T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237995888,
          "referenceAllele": "T",
          "start": 237995887
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237995888T>C",
        "CM000663.1:g.237995888T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 236062511,
          "referenceAllele": "T",
          "start": 236062510
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236062511T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 795187,
          "referenceAllele": "T",
          "start": 795186
        }
      ],
      "hgvs": [
        "NG_008799.2:g.795187T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 795405,
          "referenceAllele": "T",
          "start": 795404
        }
      ],
      "hgvs": [
        "NG_008799.3:g.795405T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15125,
          "referenceAllele": "T",
          "start": 15124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*5937T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*5937T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15165,
          "referenceAllele": "T",
          "start": 15164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.14827T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Trp4943Arg",
        "hgvsWellDefined": "ENSP00000499653.3:p.Trp4943Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15204,
          "referenceAllele": "T",
          "start": 15203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.14866T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Trp4956Arg",
        "hgvsWellDefined": "ENSP00000499787.2:p.Trp4956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7016,
          "referenceAllele": "T",
          "start": 7015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.7016T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15183,
          "referenceAllele": "T",
          "start": 15182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.14845T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Trp4949Arg",
        "hgvsWellDefined": "ENSP00000355533.2:p.Trp4949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14845T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14845T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Trp4949Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Trp4949Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14794,
          "referenceAllele": "T",
          "start": 14793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.14794T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Trp4932Arg",
        "hgvsWellDefined": "ENSP00000353174.7:p.Trp4932Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15162,
          "referenceAllele": "T",
          "start": 15161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.14845T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Trp4949Arg",
        "hgvsWellDefined": "ENSP00000355533.2:p.Trp4949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000462585.1:n.688T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "referenceAllele": "T",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.1255T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306964",
      "coordinates": [
        {
          "allele": "C",
          "end": 14965,
          "referenceAllele": "T",
          "start": 14964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.14845T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Trp4949Arg",
        "hgvsWellDefined": "NP_001026.2:p.Trp4949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15140,
          "referenceAllele": "T",
          "start": 15139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.14899T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Trp4967Arg",
        "hgvsWellDefined": "XP_006711865.1:p.Trp4967Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15137,
          "referenceAllele": "T",
          "start": 15136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.14896T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Trp4966Arg",
        "hgvsWellDefined": "XP_006711866.1:p.Trp4966Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15115,
          "referenceAllele": "T",
          "start": 15114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.14875T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Trp4959Arg",
        "hgvsWellDefined": "XP_006711867.1:p.Trp4959Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15105,
          "referenceAllele": "T",
          "start": 15104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.14869T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Trp4957Arg",
        "hgvsWellDefined": "XP_006711868.1:p.Trp4957Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15104,
          "referenceAllele": "T",
          "start": 15103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.14863T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Trp4955Arg",
        "hgvsWellDefined": "XP_006711869.1:p.Trp4955Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15080,
          "referenceAllele": "T",
          "start": 15079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.14839T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Trp4947Arg",
        "hgvsWellDefined": "XP_006711870.1:p.Trp4947Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14901,
          "referenceAllele": "T",
          "start": 14900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.14662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Trp4888Arg",
        "hgvsWellDefined": "XP_006711871.1:p.Trp4888Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15046,
          "referenceAllele": "T",
          "start": 15045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.14806T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Trp4936Arg",
        "hgvsWellDefined": "XP_006711873.1:p.Trp4936Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15213,
          "referenceAllele": "T",
          "start": 15212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.14899T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Trp4967Arg",
        "hgvsWellDefined": "XP_006711865.1:p.Trp4967Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15210,
          "referenceAllele": "T",
          "start": 15209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.14896T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Trp4966Arg",
        "hgvsWellDefined": "XP_006711866.1:p.Trp4966Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15189,
          "referenceAllele": "T",
          "start": 15188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.14875T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Trp4959Arg",
        "hgvsWellDefined": "XP_006711867.1:p.Trp4959Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15183,
          "referenceAllele": "T",
          "start": 15182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.14869T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Trp4957Arg",
        "hgvsWellDefined": "XP_006711868.1:p.Trp4957Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15177,
          "referenceAllele": "T",
          "start": 15176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.14863T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Trp4955Arg",
        "hgvsWellDefined": "XP_006711869.1:p.Trp4955Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15153,
          "referenceAllele": "T",
          "start": 15152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.14839T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Trp4947Arg",
        "hgvsWellDefined": "XP_006711870.1:p.Trp4947Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14976,
          "referenceAllele": "T",
          "start": 14975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.14662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Trp4888Arg",
        "hgvsWellDefined": "XP_006711871.1:p.Trp4888Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15120,
          "referenceAllele": "T",
          "start": 15119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.14806T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Trp4936Arg",
        "hgvsWellDefined": "XP_006711873.1:p.Trp4936Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15192,
          "referenceAllele": "T",
          "start": 15191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.14878T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Trp4960Arg",
        "hgvsWellDefined": "XP_016857517.1:p.Trp4960Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306964",
      "coordinates": [
        {
          "allele": "C",
          "end": 15183,
          "referenceAllele": "T",
          "start": 15182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.14845T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Trp4949Arg",
        "hgvsWellDefined": "NP_001026.2:p.Trp4949Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14845T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14845T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Trp4949Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Trp4949Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}