{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009896",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196605[alleleid]",
        "alleleId": 196605,
        "preferredName": "NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201255",
        "RCV": [
          "RCV000182732",
          "RCV000618427",
          "RCV000724909",
          "RCV001187136",
          "RCV002516881",
          "RCV003996760"
        ],
        "variationId": 201255
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237778016-C-T",
        "id": "1-237778016-C-T",
        "variant": "1:237778016 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237778016C>T?assembly=hg19",
        "id": "chr1:g.237778016C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237614716C>T?assembly=hg38",
        "id": "chr1:g.237614716C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770863319",
        "rs": 770863319
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237778016-C-T?dataset=gnomad_r2_1",
        "id": "1-237778016-C-T",
        "variant": "1:237778016 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237614716-C-T?dataset=gnomad_r3",
        "id": "1-237614716-C-T",
        "variant": "1:237614716 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237614716-C-T?dataset=gnomad_r4",
        "id": "1-237614716-C-T",
        "variant": "1:237614716 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237614716,
          "referenceAllele": "C",
          "start": 237614715
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237614716C>T",
        "CM000663.2:g.237614716C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237778016,
          "referenceAllele": "C",
          "start": 237778015
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237778016C>T",
        "CM000663.1:g.237778016C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235844639,
          "referenceAllele": "C",
          "start": 235844638
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235844639C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577315,
          "referenceAllele": "C",
          "start": 577314
        }
      ],
      "hgvs": [
        "NG_008799.2:g.577315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577533,
          "referenceAllele": "C",
          "start": 577532
        }
      ],
      "hgvs": [
        "NG_008799.3:g.577533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5926,
          "referenceAllele": "C",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Thr1863Met",
        "hgvsWellDefined": "ENSP00000499659.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5926,
          "referenceAllele": "C",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Thr1863Met",
        "hgvsWellDefined": "ENSP00000499653.3:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5926,
          "referenceAllele": "C",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Thr1863Met",
        "hgvsWellDefined": "ENSP00000499787.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5926,
          "referenceAllele": "C",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Thr1863Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.5588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.5588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Thr1863Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Thr1863Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5540,
          "referenceAllele": "C",
          "start": 5539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.5540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Thr1847Met",
        "hgvsWellDefined": "ENSP00000353174.7:p.Thr1847Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5905,
          "referenceAllele": "C",
          "start": 5904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Thr1863Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306859",
      "coordinates": [
        {
          "allele": "T",
          "end": 5708,
          "referenceAllele": "C",
          "start": 5707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Thr1863Met",
        "hgvsWellDefined": "NP_001026.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5859,
          "referenceAllele": "C",
          "start": 5858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711865.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5856,
          "referenceAllele": "C",
          "start": 5855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.5615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Thr1872Met",
        "hgvsWellDefined": "XP_006711866.1:p.Thr1872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5858,
          "referenceAllele": "C",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711867.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5824,
          "referenceAllele": "C",
          "start": 5823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Thr1863Met",
        "hgvsWellDefined": "XP_006711868.1:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5859,
          "referenceAllele": "C",
          "start": 5858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711869.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5859,
          "referenceAllele": "C",
          "start": 5858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711870.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711871.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5902,
          "referenceAllele": "C",
          "start": 5901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711872.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5825,
          "referenceAllele": "C",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.5585C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Thr1862Met",
        "hgvsWellDefined": "XP_006711873.1:p.Thr1862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5899,
          "referenceAllele": "C",
          "start": 5898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.5899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711865.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5929,
          "referenceAllele": "C",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.5615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Thr1872Met",
        "hgvsWellDefined": "XP_006711866.1:p.Thr1872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711867.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5902,
          "referenceAllele": "C",
          "start": 5901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Thr1863Met",
        "hgvsWellDefined": "XP_006711868.1:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711869.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711870.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.5618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Thr1873Met",
        "hgvsWellDefined": "XP_006711871.1:p.Thr1873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5899,
          "referenceAllele": "C",
          "start": 5898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.5585C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Thr1862Met",
        "hgvsWellDefined": "XP_006711873.1:p.Thr1862Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5911,
          "referenceAllele": "C",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.5597C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Thr1866Met",
        "hgvsWellDefined": "XP_016857517.1:p.Thr1866Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.5932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5932,
          "referenceAllele": "C",
          "start": 5931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.5932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306859",
      "coordinates": [
        {
          "allele": "T",
          "end": 5926,
          "referenceAllele": "C",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.5588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Thr1863Met",
        "hgvsWellDefined": "NP_001026.2:p.Thr1863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.5588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.5588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Thr1863Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Thr1863Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}