{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA087785",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=509201[alleleid]",
        "alleleId": 509201,
        "preferredName": "NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/519386",
        "RCV": [
          "RCV000776218",
          "RCV000619095",
          "RCV002531784"
        ],
        "variationId": 519386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237843759-G-A",
        "id": "1-237843759-G-A",
        "variant": "1:237843759 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237843759G>A?assembly=hg19",
        "id": "chr1:g.237843759G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237680459G>A?assembly=hg38",
        "id": "chr1:g.237680459G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751546090",
        "rs": 751546090
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237843759-G-A?dataset=gnomad_r2_1",
        "id": "1-237843759-G-A",
        "variant": "1:237843759 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237680459-G-A?dataset=gnomad_r3",
        "id": "1-237680459-G-A",
        "variant": "1:237680459 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237680459-G-A?dataset=gnomad_r4",
        "id": "1-237680459-G-A",
        "variant": "1:237680459 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237680459,
          "referenceAllele": "G",
          "start": 237680458
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237680459G>A",
        "CM000663.2:g.237680459G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237843759,
          "referenceAllele": "G",
          "start": 237843758
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237843759G>A",
        "CM000663.1:g.237843759G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235910382,
          "referenceAllele": "G",
          "start": 235910381
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235910382G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643058,
          "referenceAllele": "G",
          "start": 643057
        }
      ],
      "hgvs": [
        "NG_008799.2:g.643058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643276,
          "referenceAllele": "G",
          "start": 643275
        }
      ],
      "hgvs": [
        "NG_008799.3:g.643276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9172,
          "referenceAllele": "G",
          "start": 9171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.8834G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Arg2945His",
        "hgvsWellDefined": "ENSP00000499659.2:p.Arg2945His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9237,
          "referenceAllele": "G",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Val2967Ile",
        "hgvsWellDefined": "ENSP00000499653.3:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9237,
          "referenceAllele": "G",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Val2967Ile",
        "hgvsWellDefined": "ENSP00000499787.2:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.1088G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9237,
          "referenceAllele": "G",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val2967Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8899G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8899G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val2967Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val2967Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.1088G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8851,
          "referenceAllele": "G",
          "start": 8850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.8851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Val2951Ile",
        "hgvsWellDefined": "ENSP00000353174.7:p.Val2951Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9216,
          "referenceAllele": "G",
          "start": 9215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val2967Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.87G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801746",
      "coordinates": [
        {
          "allele": "A",
          "end": 9019,
          "referenceAllele": "G",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val2967Ile",
        "hgvsWellDefined": "NP_001026.2:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9170,
          "referenceAllele": "G",
          "start": 9169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9167,
          "referenceAllele": "G",
          "start": 9166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.8926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val2976Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Val2976Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9169,
          "referenceAllele": "G",
          "start": 9168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9135,
          "referenceAllele": "G",
          "start": 9134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val2967Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9170,
          "referenceAllele": "G",
          "start": 9169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9170,
          "referenceAllele": "G",
          "start": 9169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9099,
          "endIntronDirection": "+",
          "endIntronOffset": 5613,
          "referenceAllele": "G",
          "start": 9099,
          "startIntronDirection": "+",
          "startIntronOffset": 5612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.8860+5613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8860+5613G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9136,
          "referenceAllele": "G",
          "start": 9135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.8896G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val2966Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Val2966Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9210,
          "referenceAllele": "G",
          "start": 9209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.9210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9243,
          "referenceAllele": "G",
          "start": 9242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9240,
          "referenceAllele": "G",
          "start": 9239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.8926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val2976Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Val2976Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9243,
          "referenceAllele": "G",
          "start": 9242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9213,
          "referenceAllele": "G",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val2967Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9243,
          "referenceAllele": "G",
          "start": 9242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9243,
          "referenceAllele": "G",
          "start": 9242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.8929G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val2977Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Val2977Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9174,
          "endIntronDirection": "+",
          "endIntronOffset": 5613,
          "referenceAllele": "G",
          "start": 9174,
          "startIntronDirection": "+",
          "startIntronOffset": 5612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.8860+5613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.8860+5613G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9210,
          "referenceAllele": "G",
          "start": 9209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.8896G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val2966Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Val2966Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9222,
          "referenceAllele": "G",
          "start": 9221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.8908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Val2970Ile",
        "hgvsWellDefined": "XP_016857517.1:p.Val2970Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9243,
          "referenceAllele": "G",
          "start": 9242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.9243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658801746",
      "coordinates": [
        {
          "allele": "A",
          "end": 9237,
          "referenceAllele": "G",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.8899G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val2967Ile",
        "hgvsWellDefined": "NP_001026.2:p.Val2967Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8899G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8899G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val2967Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val2967Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}