{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009653",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196596[alleleid]",
        "alleleId": 196596,
        "preferredName": "NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201249",
        "RCV": [
          "RCV000986578",
          "RCV001188477",
          "RCV002222429"
        ],
        "variationId": 201249
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237774071-C-G",
        "id": "1-237774071-C-G",
        "variant": "1:237774071 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237774071C>G?assembly=hg19",
        "id": "chr1:g.237774071C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237610771C>G?assembly=hg38",
        "id": "chr1:g.237610771C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778783933",
        "rs": 778783933
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237774071-C-G?dataset=gnomad_r2_1",
        "id": "1-237774071-C-G",
        "variant": "1:237774071 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237610771-C-G?dataset=gnomad_r3",
        "id": "1-237610771-C-G",
        "variant": "1:237610771 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237610771-C-G?dataset=gnomad_r4",
        "id": "1-237610771-C-G",
        "variant": "1:237610771 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237610771,
          "referenceAllele": "C",
          "start": 237610770
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237610771C>G",
        "CM000663.2:g.237610771C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237774071,
          "referenceAllele": "C",
          "start": 237774070
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237774071C>G",
        "CM000663.1:g.237774071C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235840694,
          "referenceAllele": "C",
          "start": 235840693
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235840694C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573370,
          "referenceAllele": "C",
          "start": 573369
        }
      ],
      "hgvs": [
        "NG_008799.2:g.573370C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573588,
          "referenceAllele": "C",
          "start": 573587
        }
      ],
      "hgvs": [
        "NG_008799.3:g.573588C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5031,
          "referenceAllele": "C",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Pro1565Ala",
        "hgvsWellDefined": "ENSP00000499659.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5031,
          "referenceAllele": "C",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Pro1565Ala",
        "hgvsWellDefined": "ENSP00000499653.3:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5031,
          "referenceAllele": "C",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Pro1565Ala",
        "hgvsWellDefined": "ENSP00000499787.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5031,
          "referenceAllele": "C",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Pro1565Ala",
        "hgvsWellDefined": "ENSP00000355533.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4693C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4693C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Pro1565Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Pro1565Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4645,
          "referenceAllele": "C",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.4645C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Pro1549Ala",
        "hgvsWellDefined": "ENSP00000353174.7:p.Pro1549Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5010,
          "referenceAllele": "C",
          "start": 5009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Pro1565Ala",
        "hgvsWellDefined": "ENSP00000355533.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306853",
      "coordinates": [
        {
          "allele": "G",
          "end": 4813,
          "referenceAllele": "C",
          "start": 4812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Pro1565Ala",
        "hgvsWellDefined": "NP_001026.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4964,
          "referenceAllele": "C",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711865.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4961,
          "referenceAllele": "C",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.4720C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Pro1574Ala",
        "hgvsWellDefined": "XP_006711866.1:p.Pro1574Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4963,
          "referenceAllele": "C",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711867.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4929,
          "referenceAllele": "C",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Pro1565Ala",
        "hgvsWellDefined": "XP_006711868.1:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4964,
          "referenceAllele": "C",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711869.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4964,
          "referenceAllele": "C",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711870.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4962,
          "referenceAllele": "C",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711871.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5007,
          "referenceAllele": "C",
          "start": 5006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711872.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4930,
          "referenceAllele": "C",
          "start": 4929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.4690C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Pro1564Ala",
        "hgvsWellDefined": "XP_006711873.1:p.Pro1564Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5004,
          "referenceAllele": "C",
          "start": 5003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.5004C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711865.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5034,
          "referenceAllele": "C",
          "start": 5033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.4720C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Pro1574Ala",
        "hgvsWellDefined": "XP_006711866.1:p.Pro1574Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711867.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5007,
          "referenceAllele": "C",
          "start": 5006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Pro1565Ala",
        "hgvsWellDefined": "XP_006711868.1:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711869.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711870.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.4723C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Pro1575Ala",
        "hgvsWellDefined": "XP_006711871.1:p.Pro1575Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5004,
          "referenceAllele": "C",
          "start": 5003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.4690C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Pro1564Ala",
        "hgvsWellDefined": "XP_006711873.1:p.Pro1564Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5016,
          "referenceAllele": "C",
          "start": 5015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.4702C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Pro1568Ala",
        "hgvsWellDefined": "XP_016857517.1:p.Pro1568Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.5037C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.5037C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306853",
      "coordinates": [
        {
          "allele": "G",
          "end": 5031,
          "referenceAllele": "C",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.4693C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Pro1565Ala",
        "hgvsWellDefined": "NP_001026.2:p.Pro1565Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4693C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4693C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Pro1565Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Pro1565Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}