{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA085940",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=673531",
        "active": true,
        "id": "COSM673531"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4234089",
        "active": true,
        "id": "COSM4234089"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=906592[alleleid]",
        "alleleId": 906592,
        "preferredName": "NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/928176",
        "RCV": [
          "RCV001191892",
          "RCV001700717",
          "RCV002559206",
          "RCV004010552"
        ],
        "variationId": 928176
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237659836-G-A",
        "id": "1-237659836-G-A",
        "variant": "1:237659836 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237659836G>A?assembly=hg19",
        "id": "chr1:g.237659836G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237496536G>A?assembly=hg38",
        "id": "chr1:g.237496536G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374277541",
        "rs": 374277541
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237659836-G-A?dataset=gnomad_r2_1",
        "id": "1-237659836-G-A",
        "variant": "1:237659836 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237496536-G-A?dataset=gnomad_r3",
        "id": "1-237496536-G-A",
        "variant": "1:237496536 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237496536-G-A?dataset=gnomad_r4",
        "id": "1-237496536-G-A",
        "variant": "1:237496536 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237496536,
          "referenceAllele": "G",
          "start": 237496535
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237496536G>A",
        "CM000663.2:g.237496536G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237659836,
          "referenceAllele": "G",
          "start": 237659835
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237659836G>A",
        "CM000663.1:g.237659836G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235726459,
          "referenceAllele": "G",
          "start": 235726458
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235726459G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459135,
          "referenceAllele": "G",
          "start": 459134
        }
      ],
      "hgvs": [
        "NG_008799.2:g.459135G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459353,
          "referenceAllele": "G",
          "start": 459352
        }
      ],
      "hgvs": [
        "NG_008799.3:g.459353G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Val663Ile",
        "hgvsWellDefined": "ENSP00000499659.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Val663Ile",
        "hgvsWellDefined": "ENSP00000499653.3:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Val663Ile",
        "hgvsWellDefined": "ENSP00000499787.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val663Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1987G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1987G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val663Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val663Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.1939G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Val647Ile",
        "hgvsWellDefined": "ENSP00000353174.7:p.Val647Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val663Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669509",
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val663Ile",
        "hgvsWellDefined": "NP_001026.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711872.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.2268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val663Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2280,
          "referenceAllele": "G",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.1966G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Val656Ile",
        "hgvsWellDefined": "XP_016857517.1:p.Val656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.2301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.2301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669509",
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.1987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val663Ile",
        "hgvsWellDefined": "NP_001026.2:p.Val663Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1987G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1987G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val663Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val663Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}