{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA084261",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=906246",
        "active": true,
        "id": "COSM906246"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3485823",
        "active": true,
        "id": "COSM3485823"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=365031[alleleid]",
        "alleleId": 365031,
        "preferredName": "NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/387165",
        "RCV": [
          "RCV000420098",
          "RCV001191142",
          "RCV003168673",
          "RCV002522353",
          "RCV004000465"
        ],
        "variationId": 387165
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237875071-C-T",
        "id": "1-237875071-C-T",
        "variant": "1:237875071 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237875071C>T?assembly=hg19",
        "id": "chr1:g.237875071C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237711771C>T?assembly=hg38",
        "id": "chr1:g.237711771C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748715725",
        "rs": 748715725
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237875071-C-T?dataset=gnomad_r2_1",
        "id": "1-237875071-C-T",
        "variant": "1:237875071 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237711771-C-T?dataset=gnomad_r3",
        "id": "1-237711771-C-T",
        "variant": "1:237711771 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237711771-C-T?dataset=gnomad_r4",
        "id": "1-237711771-C-T",
        "variant": "1:237711771 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237711771,
          "referenceAllele": "C",
          "start": 237711770
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237711771C>T",
        "CM000663.2:g.237711771C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237875071,
          "referenceAllele": "C",
          "start": 237875070
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237875071C>T",
        "CM000663.1:g.237875071C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235941694,
          "referenceAllele": "C",
          "start": 235941693
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235941694C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674370,
          "referenceAllele": "C",
          "start": 674369
        }
      ],
      "hgvs": [
        "NG_008799.2:g.674370C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674588,
          "referenceAllele": "C",
          "start": 674587
        }
      ],
      "hgvs": [
        "NG_008799.3:g.674588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10480,
          "referenceAllele": "C",
          "start": 10479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*1292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*1292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10595,
          "referenceAllele": "C",
          "start": 10594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10595,
          "referenceAllele": "C",
          "start": 10594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.2446C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10595,
          "referenceAllele": "C",
          "start": 10594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.10257C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.10257C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe3419="
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe3419="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.2446C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000661330.1:c.64C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10209,
          "referenceAllele": "C",
          "start": 10208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.10209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Phe3403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10574,
          "referenceAllele": "C",
          "start": 10573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.1395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347493",
      "coordinates": [
        {
          "allele": "T",
          "end": 10377,
          "referenceAllele": "C",
          "start": 10376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10528,
          "referenceAllele": "C",
          "start": 10527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10525,
          "referenceAllele": "C",
          "start": 10524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.10284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe3428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10527,
          "referenceAllele": "C",
          "start": 10526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10493,
          "referenceAllele": "C",
          "start": 10492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10528,
          "referenceAllele": "C",
          "start": 10527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10528,
          "referenceAllele": "C",
          "start": 10527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10289,
          "referenceAllele": "C",
          "start": 10288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.10050C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe3350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10494,
          "referenceAllele": "C",
          "start": 10493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.10254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe3418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10601,
          "referenceAllele": "C",
          "start": 10600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10598,
          "referenceAllele": "C",
          "start": 10597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.10284C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe3428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10601,
          "referenceAllele": "C",
          "start": 10600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10571,
          "referenceAllele": "C",
          "start": 10570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10601,
          "referenceAllele": "C",
          "start": 10600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10601,
          "referenceAllele": "C",
          "start": 10600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.10287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe3429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10364,
          "referenceAllele": "C",
          "start": 10363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.10050C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe3350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10568,
          "referenceAllele": "C",
          "start": 10567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.10254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe3418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10580,
          "referenceAllele": "C",
          "start": 10579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.10266C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Phe3422="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347493",
      "coordinates": [
        {
          "allele": "T",
          "end": 10595,
          "referenceAllele": "C",
          "start": 10594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.10257C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe3419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.10257C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.10257C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe3419="
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe3419="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}