{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA087436",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=906217",
        "active": true,
        "id": "COSM906217"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=447842[alleleid]",
        "alleleId": 447842,
        "preferredName": "NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463640",
        "RCV": [
          "RCV003532167",
          "RCV003153701",
          "RCV003999129"
        ],
        "variationId": 463640
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237813288-G-A",
        "id": "1-237813288-G-A",
        "variant": "1:237813288 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237813288G>A?assembly=hg19",
        "id": "chr1:g.237813288G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237649988G>A?assembly=hg38",
        "id": "chr1:g.237649988G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373602064",
        "rs": 373602064
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237813288-G-A?dataset=gnomad_r2_1",
        "id": "1-237813288-G-A",
        "variant": "1:237813288 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237649988-G-A?dataset=gnomad_r4",
        "id": "1-237649988-G-A",
        "variant": "1:237649988 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237649988,
          "referenceAllele": "G",
          "start": 237649987
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237649988G>A",
        "CM000663.2:g.237649988G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237813288,
          "referenceAllele": "G",
          "start": 237813287
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237813288G>A",
        "CM000663.1:g.237813288G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235879911,
          "referenceAllele": "G",
          "start": 235879910
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235879911G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612587,
          "referenceAllele": "G",
          "start": 612586
        }
      ],
      "hgvs": [
        "NG_008799.2:g.612587G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612805,
          "referenceAllele": "G",
          "start": 612804
        }
      ],
      "hgvs": [
        "NG_008799.3:g.612805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Ala2542Thr",
        "hgvsWellDefined": "ENSP00000499659.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Ala2542Thr",
        "hgvsWellDefined": "ENSP00000499653.3:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Ala2542Thr",
        "hgvsWellDefined": "ENSP00000499787.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ala2542Thr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.7624G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.7624G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ala2542Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ala2542Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7576,
          "referenceAllele": "G",
          "start": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.7576G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Ala2526Thr",
        "hgvsWellDefined": "ENSP00000353174.7:p.Ala2526Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7941,
          "referenceAllele": "G",
          "start": 7940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ala2542Thr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681733",
      "coordinates": [
        {
          "allele": "A",
          "end": 7744,
          "referenceAllele": "G",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ala2542Thr",
        "hgvsWellDefined": "NP_001026.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7895,
          "referenceAllele": "G",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711865.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7892,
          "referenceAllele": "G",
          "start": 7891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.7651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ala2551Thr",
        "hgvsWellDefined": "XP_006711866.1:p.Ala2551Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7894,
          "referenceAllele": "G",
          "start": 7893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711867.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7860,
          "referenceAllele": "G",
          "start": 7859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ala2542Thr",
        "hgvsWellDefined": "XP_006711868.1:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7895,
          "referenceAllele": "G",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711869.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7895,
          "referenceAllele": "G",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711870.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7893,
          "referenceAllele": "G",
          "start": 7892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711871.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7938,
          "referenceAllele": "G",
          "start": 7937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711872.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7861,
          "referenceAllele": "G",
          "start": 7860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.7621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ala2541Thr",
        "hgvsWellDefined": "XP_006711873.1:p.Ala2541Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7935,
          "referenceAllele": "G",
          "start": 7934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.7935G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711865.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7965,
          "referenceAllele": "G",
          "start": 7964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.7651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ala2551Thr",
        "hgvsWellDefined": "XP_006711866.1:p.Ala2551Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711867.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7938,
          "referenceAllele": "G",
          "start": 7937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ala2542Thr",
        "hgvsWellDefined": "XP_006711868.1:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711869.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711870.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.7654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ala2552Thr",
        "hgvsWellDefined": "XP_006711871.1:p.Ala2552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7935,
          "referenceAllele": "G",
          "start": 7934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.7621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ala2541Thr",
        "hgvsWellDefined": "XP_006711873.1:p.Ala2541Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7947,
          "referenceAllele": "G",
          "start": 7946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.7633G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Ala2545Thr",
        "hgvsWellDefined": "XP_016857517.1:p.Ala2545Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.7968G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7968,
          "referenceAllele": "G",
          "start": 7967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.7968G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681733",
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.7624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ala2542Thr",
        "hgvsWellDefined": "NP_001026.2:p.Ala2542Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.7624G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.7624G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ala2542Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ala2542Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}