{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10976559",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.274-8351C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237510914C>T?assembly=hg19",
        "id": "chr1:g.237510914C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237347614C>T?assembly=hg38",
        "id": "chr1:g.237347614C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2050656",
        "rs": 2050656
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237510914-C-T?dataset=gnomad_r2_1",
        "id": "1-237510914-C-T",
        "variant": "1:237510914 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237347614-C-T?dataset=gnomad_r3",
        "id": "1-237347614-C-T",
        "variant": "1:237347614 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237347614-C-T?dataset=gnomad_r4",
        "id": "1-237347614-C-T",
        "variant": "1:237347614 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237347614,
          "referenceAllele": "C",
          "start": 237347613
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237347614C>T",
        "CM000663.2:g.237347614C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237510914,
          "referenceAllele": "C",
          "start": 237510913
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237510914C>T",
        "CM000663.1:g.237510914C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235577537,
          "referenceAllele": "C",
          "start": 235577536
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235577537C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310213,
          "referenceAllele": "C",
          "start": 310212
        }
      ],
      "hgvs": [
        "NG_008799.2:g.310213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310431,
          "referenceAllele": "C",
          "start": 310430
        }
      ],
      "hgvs": [
        "NG_008799.3:g.310431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.274-8351C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.274-8351C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.274-8351C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.274-8351C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 225,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.226-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.226-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 393,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 513,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 513,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.555-8351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "+",
          "endIntronOffset": 16632,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "+",
          "startIntronOffset": 16631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.273+16632C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.273+16632C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.588-8351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.588-8351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 8350,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 8351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.274-8351C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.274-8351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.274-8351C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.274-8351C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.274-8351C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.274-8351C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}