{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15118402",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.14591-1559A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237990122A>G?assembly=hg19",
        "id": "chr1:g.237990122A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237826822A>G?assembly=hg38",
        "id": "chr1:g.237826822A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2819742",
        "rs": 2819742
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237990122-A-G?dataset=gnomad_r2_1",
        "id": "1-237990122-A-G",
        "variant": "1:237990122 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237826822-A-G?dataset=gnomad_r3",
        "id": "1-237826822-A-G",
        "variant": "1:237826822 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237826822-A-G?dataset=gnomad_r4",
        "id": "1-237826822-A-G",
        "variant": "1:237826822 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237826822,
          "referenceAllele": "A",
          "start": 237826821
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237826822A>G",
        "CM000663.2:g.237826822A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237990122,
          "referenceAllele": "A",
          "start": 237990121
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237990122A>G",
        "CM000663.1:g.237990122A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236056745,
          "referenceAllele": "A",
          "start": 236056744
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236056745A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789421,
          "referenceAllele": "A",
          "start": 789420
        }
      ],
      "hgvs": [
        "NG_008799.2:g.789421A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789639,
          "referenceAllele": "A",
          "start": 789638
        }
      ],
      "hgvs": [
        "NG_008799.3:g.789639A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14870,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14870,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*5683-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*5683-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14910,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14910,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.14573-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.14573-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14949,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14949,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.14612-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.14612-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6761,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 6761,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.6762-1559A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14928,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14928,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.14591-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.14591-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14591-1559A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14591-1559A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.14591-1559A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.14591-1559A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14539,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14539,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.14540-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.14540-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14907,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14907,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.14591-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.14591-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1101,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 1101,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.1102-1559A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14710,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14710,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.14591-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.14591-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14885,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14885,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.14645-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.14645-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14882,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14882,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.14642-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.14642-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14860,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14860,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.14621-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.14621-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14850,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14850,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.14615-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.14615-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14849,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14849,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.14609-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.14609-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14825,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14825,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.14585-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.14585-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14646,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14646,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.14408-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.14408-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14791,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14791,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.14552-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.14552-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14958,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14958,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.14645-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.14645-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14955,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14955,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.14642-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.14642-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14934,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14934,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.14621-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.14621-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14928,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14928,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.14615-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.14615-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14922,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14922,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.14609-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.14609-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14898,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14898,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.14585-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.14585-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14721,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14721,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.14408-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.14408-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14865,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14865,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.14552-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.14552-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14937,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14937,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.14624-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.14624-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14928,
          "endIntronDirection": "-",
          "endIntronOffset": 1558,
          "referenceAllele": "A",
          "start": 14928,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.14591-1559A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.14591-1559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14591-1559A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14591-1559A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.14591-1559A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.14591-1559A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}