{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009643",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165583[alleleid]",
        "alleleId": 165583,
        "preferredName": "NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155831",
        "RCV": [
          "RCV000143946",
          "RCV000182725",
          "RCV000157455",
          "RCV000766716",
          "RCV001186230",
          "RCV002514771",
          "RCV003998155"
        ],
        "variationId": 155831
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237774070-G-A",
        "id": "1-237774070-G-A",
        "variant": "1:237774070 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237774070G>A?assembly=hg19",
        "id": "chr1:g.237774070G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237610770G>A?assembly=hg38",
        "id": "chr1:g.237610770G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201675951",
        "rs": 201675951
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237774070-G-A?dataset=gnomad_r2_1",
        "id": "1-237774070-G-A",
        "variant": "1:237774070 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237610770-G-A?dataset=gnomad_r3",
        "id": "1-237610770-G-A",
        "variant": "1:237610770 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237610770-G-A?dataset=gnomad_r4",
        "id": "1-237610770-G-A",
        "variant": "1:237610770 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237610770,
          "referenceAllele": "G",
          "start": 237610769
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237610770G>A",
        "CM000663.2:g.237610770G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237774070,
          "referenceAllele": "G",
          "start": 237774069
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237774070G>A",
        "CM000663.1:g.237774070G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235840693,
          "referenceAllele": "G",
          "start": 235840692
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235840693G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573369,
          "referenceAllele": "G",
          "start": 573368
        }
      ],
      "hgvs": [
        "NG_008799.2:g.573369G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573587,
          "referenceAllele": "G",
          "start": 573586
        }
      ],
      "hgvs": [
        "NG_008799.3:g.573587G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Met1564Ile",
        "hgvsWellDefined": "ENSP00000499659.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Met1564Ile",
        "hgvsWellDefined": "ENSP00000499653.3:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Met1564Ile",
        "hgvsWellDefined": "ENSP00000499787.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met1564Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4692G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4692G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met1564Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met1564Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4644,
          "referenceAllele": "G",
          "start": 4643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.4644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Met1548Ile",
        "hgvsWellDefined": "ENSP00000353174.7:p.Met1548Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5009,
          "referenceAllele": "G",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met1564Ile",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306852",
      "coordinates": [
        {
          "allele": "A",
          "end": 4812,
          "referenceAllele": "G",
          "start": 4811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met1564Ile",
        "hgvsWellDefined": "NP_001026.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4963,
          "referenceAllele": "G",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4960,
          "referenceAllele": "G",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.4719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met1573Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Met1573Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4962,
          "referenceAllele": "G",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4928,
          "referenceAllele": "G",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met1564Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4963,
          "referenceAllele": "G",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4963,
          "referenceAllele": "G",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4961,
          "referenceAllele": "G",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5006,
          "referenceAllele": "G",
          "start": 5005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711872.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4929,
          "referenceAllele": "G",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.4689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met1563Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Met1563Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5003,
          "referenceAllele": "G",
          "start": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.5003G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711865.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5033,
          "referenceAllele": "G",
          "start": 5032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.4719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met1573Ile",
        "hgvsWellDefined": "XP_006711866.1:p.Met1573Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711867.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5006,
          "referenceAllele": "G",
          "start": 5005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met1564Ile",
        "hgvsWellDefined": "XP_006711868.1:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711869.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711870.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.4722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met1574Ile",
        "hgvsWellDefined": "XP_006711871.1:p.Met1574Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5003,
          "referenceAllele": "G",
          "start": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.4689G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met1563Ile",
        "hgvsWellDefined": "XP_006711873.1:p.Met1563Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5015,
          "referenceAllele": "G",
          "start": 5014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.4701G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Met1567Ile",
        "hgvsWellDefined": "XP_016857517.1:p.Met1567Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.5036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5036,
          "referenceAllele": "G",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.5036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306852",
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.4692G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met1564Ile",
        "hgvsWellDefined": "NP_001026.2:p.Met1564Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4692G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4692G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met1564Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met1564Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}