{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA529550845",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.11146-8G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=915406[alleleid]",
        "alleleId": 915406,
        "preferredName": "NM_001035.3(RYR2):c.11146-8G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/925056",
        "RCV": [
          "RCV001186795",
          "RCV002559950"
        ],
        "variationId": 925056
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237919580G>A?assembly=hg19",
        "id": "chr1:g.237919580G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237756280G>A?assembly=hg38",
        "id": "chr1:g.237756280G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1425021300",
        "rs": 1425021300
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237919580-G-A?dataset=gnomad_r2_1",
        "id": "1-237919580-G-A",
        "variant": "1:237919580 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237756280-G-A?dataset=gnomad_r4",
        "id": "1-237756280-G-A",
        "variant": "1:237756280 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237756280,
          "referenceAllele": "G",
          "start": 237756279
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237756280G>A",
        "CM000663.2:g.237756280G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237919580,
          "referenceAllele": "G",
          "start": 237919579
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237919580G>A",
        "CM000663.1:g.237919580G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235986203,
          "referenceAllele": "G",
          "start": 235986202
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235986203G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718879,
          "referenceAllele": "G",
          "start": 718878
        }
      ],
      "hgvs": [
        "NG_008799.2:g.718879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719097,
          "referenceAllele": "G",
          "start": 719096
        }
      ],
      "hgvs": [
        "NG_008799.3:g.719097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11425,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11425,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*2238-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*2238-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11471,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11471,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.11134-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.11134-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11471,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11471,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.11134-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.11134-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3322,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3322,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.3323-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11483,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11483,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.11146-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.11146-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11146-8G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11146-8G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.11146-8G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.11146-8G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3322,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3322,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.3323-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.1166-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11097,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11097,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11098-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.11098-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11462,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11462,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.11146-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.11146-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2340,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.2341-8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11265,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11265,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.11146-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.11146-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11440,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11440,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.11200-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.11200-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11437,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11437,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.11197-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.11197-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11415,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11415,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.11176-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.11176-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11405,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11405,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.11170-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.11170-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11404,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11404,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.11164-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.11164-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11380,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11380,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.11140-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.11140-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11201,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11201,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.10963-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.10963-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11346,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11346,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.11107-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.11107-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11513,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11513,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.11200-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.11200-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11510,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11510,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.11197-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.11197-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11489,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11489,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.11176-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.11176-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11483,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11483,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.11170-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.11170-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11477,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11477,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.11164-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.11164-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11453,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11453,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.11140-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.11140-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11276,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11276,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.10963-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.10963-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11420,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11420,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.11107-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.11107-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11492,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11492,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.11179-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.11179-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11483,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 11483,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.11146-8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.11146-8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11146-8G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11146-8G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.11146-8G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.11146-8G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}