{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA529550854",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.11245+6G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=915188[alleleid]",
        "alleleId": 915188,
        "preferredName": "NM_001035.3(RYR2):c.11245+6G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/926268",
        "RCV": [
          "RCV001188759",
          "RCV004010307"
        ],
        "variationId": 926268
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237919693G>A?assembly=hg19",
        "id": "chr1:g.237919693G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237756393G>A?assembly=hg38",
        "id": "chr1:g.237756393G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1366481570",
        "rs": 1366481570
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237919693-G-A?dataset=gnomad_r2_1",
        "id": "1-237919693-G-A",
        "variant": "1:237919693 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237756393-G-A?dataset=gnomad_r3",
        "id": "1-237756393-G-A",
        "variant": "1:237756393 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237756393-G-A?dataset=gnomad_r4",
        "id": "1-237756393-G-A",
        "variant": "1:237756393 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237756393,
          "referenceAllele": "G",
          "start": 237756392
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237756393G>A",
        "CM000663.2:g.237756393G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237919693,
          "referenceAllele": "G",
          "start": 237919692
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237919693G>A",
        "CM000663.1:g.237919693G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235986316,
          "referenceAllele": "G",
          "start": 235986315
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235986316G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718992,
          "referenceAllele": "G",
          "start": 718991
        }
      ],
      "hgvs": [
        "NG_008799.2:g.718992G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719210,
          "referenceAllele": "G",
          "start": 719209
        }
      ],
      "hgvs": [
        "NG_008799.3:g.719210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11525,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11525,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*2337+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*2337+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11571,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11571,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.11233+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.11233+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11571,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11571,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.11233+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.11233+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3422,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 3422,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.3422+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11583,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11583,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.11245+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.11245+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11245+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11245+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.11245+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.11245+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3422,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 3422,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.3422+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 1265,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.1265+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11197,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11197,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11197+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:n.11197+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11562,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11562,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.11245+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.11245+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2440,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 2440,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.2440+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11365,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11365,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.11245+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.11245+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11540,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11540,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.11299+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.11299+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11537,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11537,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.11296+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.11296+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11515,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11515,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.11275+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.11275+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11505,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11505,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.11269+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.11269+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11504,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11504,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.11263+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.11263+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11480,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11480,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.11239+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.11239+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11301,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11301,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11062+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.11062+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11446,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11446,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.11206+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.11206+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11613,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11613,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.11299+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.11299+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11610,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11610,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.11296+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.11296+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11589,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11589,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.11275+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.11275+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11583,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11583,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.11269+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.11269+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11577,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11577,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.11263+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.11263+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11553,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11553,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.11239+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.11239+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11376,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11376,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11062+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.11062+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11520,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11520,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.11206+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.11206+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11592,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11592,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.11278+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.11278+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11583,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11583,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.11245+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.11245+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11245+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11245+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.11245+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.11245+6G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}