{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA086981",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=391090[alleleid]",
        "alleleId": 391090,
        "preferredName": "NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404222",
        "RCV": [
          "RCV001185258",
          "RCV002506090",
          "RCV002356633",
          "RCV004000624",
          "RCV003103770"
        ],
        "variationId": 404222
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237780694-T-C",
        "id": "1-237780694-T-C",
        "variant": "1:237780694 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237780694T>C?assembly=hg19",
        "id": "chr1:g.237780694T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237617394T>C?assembly=hg38",
        "id": "chr1:g.237617394T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368669045",
        "rs": 368669045
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237780694-T-C?dataset=gnomad_r2_1",
        "id": "1-237780694-T-C",
        "variant": "1:237780694 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237617394-T-C?dataset=gnomad_r3",
        "id": "1-237617394-T-C",
        "variant": "1:237617394 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237617394-T-C?dataset=gnomad_r4",
        "id": "1-237617394-T-C",
        "variant": "1:237617394 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237617394,
          "referenceAllele": "T",
          "start": 237617393
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237617394T>C",
        "CM000663.2:g.237617394T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237780694,
          "referenceAllele": "T",
          "start": 237780693
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237780694T>C",
        "CM000663.1:g.237780694T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 235847317,
          "referenceAllele": "T",
          "start": 235847316
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235847317T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579993,
          "referenceAllele": "T",
          "start": 579992
        }
      ],
      "hgvs": [
        "NG_008799.2:g.579993T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580211,
          "referenceAllele": "T",
          "start": 580210
        }
      ],
      "hgvs": [
        "NG_008799.3:g.580211T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6162,
          "referenceAllele": "T",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Phe1942Leu",
        "hgvsWellDefined": "ENSP00000499659.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6162,
          "referenceAllele": "T",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Phe1942Leu",
        "hgvsWellDefined": "ENSP00000499653.3:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6162,
          "referenceAllele": "T",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Phe1942Leu",
        "hgvsWellDefined": "ENSP00000499787.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6162,
          "referenceAllele": "T",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe1942Leu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.5824T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.5824T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe1942Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe1942Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5776,
          "referenceAllele": "T",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.5776T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Phe1926Leu",
        "hgvsWellDefined": "ENSP00000353174.7:p.Phe1926Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6141,
          "referenceAllele": "T",
          "start": 6140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Phe1942Leu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389395",
      "coordinates": [
        {
          "allele": "C",
          "end": 5944,
          "referenceAllele": "T",
          "start": 5943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe1942Leu",
        "hgvsWellDefined": "NP_001026.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6095,
          "referenceAllele": "T",
          "start": 6094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711865.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6092,
          "referenceAllele": "T",
          "start": 6091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.5851T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe1951Leu",
        "hgvsWellDefined": "XP_006711866.1:p.Phe1951Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6094,
          "referenceAllele": "T",
          "start": 6093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711867.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6060,
          "referenceAllele": "T",
          "start": 6059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe1942Leu",
        "hgvsWellDefined": "XP_006711868.1:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6095,
          "referenceAllele": "T",
          "start": 6094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711869.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6095,
          "referenceAllele": "T",
          "start": 6094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711870.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6093,
          "referenceAllele": "T",
          "start": 6092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711871.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6138,
          "referenceAllele": "T",
          "start": 6137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711872.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6061,
          "referenceAllele": "T",
          "start": 6060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.5821T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe1941Leu",
        "hgvsWellDefined": "XP_006711873.1:p.Phe1941Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6135,
          "referenceAllele": "T",
          "start": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.6135T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711865.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6165,
          "referenceAllele": "T",
          "start": 6164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.5851T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Phe1951Leu",
        "hgvsWellDefined": "XP_006711866.1:p.Phe1951Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711867.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6138,
          "referenceAllele": "T",
          "start": 6137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Phe1942Leu",
        "hgvsWellDefined": "XP_006711868.1:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711869.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711870.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.5854T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Phe1952Leu",
        "hgvsWellDefined": "XP_006711871.1:p.Phe1952Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6135,
          "referenceAllele": "T",
          "start": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.5821T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Phe1941Leu",
        "hgvsWellDefined": "XP_006711873.1:p.Phe1941Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6147,
          "referenceAllele": "T",
          "start": 6146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.5833T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Phe1945Leu",
        "hgvsWellDefined": "XP_016857517.1:p.Phe1945Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.6168T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6168,
          "referenceAllele": "T",
          "start": 6167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.6168T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389395",
      "coordinates": [
        {
          "allele": "C",
          "end": 6162,
          "referenceAllele": "T",
          "start": 6161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.5824T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Phe1942Leu",
        "hgvsWellDefined": "NP_001026.2:p.Phe1942Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.5824T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.5824T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Phe1942Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Phe1942Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}