{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008183",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52908[alleleid]",
        "alleleId": 52908,
        "preferredName": "NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43739",
        "RCV": [
          "RCV000036693",
          "RCV001175858",
          "RCV001797049",
          "RCV002513407",
          "RCV003162319",
          "RCV003996256"
        ],
        "variationId": 43739
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237969452-G-A",
        "id": "1-237969452-G-A",
        "variant": "1:237969452 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237969452G>A?assembly=hg19",
        "id": "chr1:g.237969452G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237806152G>A?assembly=hg38",
        "id": "chr1:g.237806152G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516514",
        "rs": 397516514
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237969452-G-A?dataset=gnomad_r2_1",
        "id": "1-237969452-G-A",
        "variant": "1:237969452 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237806152-G-A?dataset=gnomad_r4",
        "id": "1-237806152-G-A",
        "variant": "1:237806152 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237806152,
          "referenceAllele": "G",
          "start": 237806151
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237806152G>A",
        "CM000663.2:g.237806152G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237969452,
          "referenceAllele": "G",
          "start": 237969451
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237969452G>A",
        "CM000663.1:g.237969452G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 236036075,
          "referenceAllele": "G",
          "start": 236036074
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236036075G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768751,
          "referenceAllele": "G",
          "start": 768750
        }
      ],
      "hgvs": [
        "NG_008799.2:g.768751G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768969,
          "referenceAllele": "G",
          "start": 768968
        }
      ],
      "hgvs": [
        "NG_008799.3:g.768969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14447,
          "referenceAllele": "G",
          "start": 14446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*5259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*5259G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14487,
          "referenceAllele": "G",
          "start": 14486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.14149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Ala4717Thr",
        "hgvsWellDefined": "ENSP00000499653.3:p.Ala4717Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14526,
          "referenceAllele": "G",
          "start": 14525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.14188G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Ala4730Thr",
        "hgvsWellDefined": "ENSP00000499787.2:p.Ala4730Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6338,
          "referenceAllele": "G",
          "start": 6337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.6338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14505,
          "referenceAllele": "G",
          "start": 14504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.14167G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ala4723Thr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ala4723Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14167G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14167G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ala4723Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ala4723Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14116,
          "referenceAllele": "G",
          "start": 14115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.14116G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Ala4706Thr",
        "hgvsWellDefined": "ENSP00000353174.7:p.Ala4706Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14484,
          "referenceAllele": "G",
          "start": 14483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.14167G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ala4723Thr",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ala4723Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.678G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132940",
      "coordinates": [
        {
          "allele": "A",
          "end": 14287,
          "referenceAllele": "G",
          "start": 14286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.14167G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ala4723Thr",
        "hgvsWellDefined": "NP_001026.2:p.Ala4723Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14462,
          "referenceAllele": "G",
          "start": 14461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.14221G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ala4741Thr",
        "hgvsWellDefined": "XP_006711865.1:p.Ala4741Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14459,
          "referenceAllele": "G",
          "start": 14458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.14218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ala4740Thr",
        "hgvsWellDefined": "XP_006711866.1:p.Ala4740Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14437,
          "referenceAllele": "G",
          "start": 14436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.14197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ala4733Thr",
        "hgvsWellDefined": "XP_006711867.1:p.Ala4733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14427,
          "referenceAllele": "G",
          "start": 14426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.14191G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ala4731Thr",
        "hgvsWellDefined": "XP_006711868.1:p.Ala4731Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14426,
          "referenceAllele": "G",
          "start": 14425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.14185G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ala4729Thr",
        "hgvsWellDefined": "XP_006711869.1:p.Ala4729Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14402,
          "referenceAllele": "G",
          "start": 14401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.14161G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ala4721Thr",
        "hgvsWellDefined": "XP_006711870.1:p.Ala4721Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14223,
          "referenceAllele": "G",
          "start": 14222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.13984G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ala4662Thr",
        "hgvsWellDefined": "XP_006711871.1:p.Ala4662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14368,
          "referenceAllele": "G",
          "start": 14367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.14128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ala4710Thr",
        "hgvsWellDefined": "XP_006711873.1:p.Ala4710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14535,
          "referenceAllele": "G",
          "start": 14534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.14221G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ala4741Thr",
        "hgvsWellDefined": "XP_006711865.1:p.Ala4741Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14532,
          "referenceAllele": "G",
          "start": 14531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.14218G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ala4740Thr",
        "hgvsWellDefined": "XP_006711866.1:p.Ala4740Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14511,
          "referenceAllele": "G",
          "start": 14510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.14197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ala4733Thr",
        "hgvsWellDefined": "XP_006711867.1:p.Ala4733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14505,
          "referenceAllele": "G",
          "start": 14504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.14191G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ala4731Thr",
        "hgvsWellDefined": "XP_006711868.1:p.Ala4731Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14499,
          "referenceAllele": "G",
          "start": 14498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.14185G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ala4729Thr",
        "hgvsWellDefined": "XP_006711869.1:p.Ala4729Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14475,
          "referenceAllele": "G",
          "start": 14474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.14161G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ala4721Thr",
        "hgvsWellDefined": "XP_006711870.1:p.Ala4721Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14298,
          "referenceAllele": "G",
          "start": 14297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.13984G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ala4662Thr",
        "hgvsWellDefined": "XP_006711871.1:p.Ala4662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14442,
          "referenceAllele": "G",
          "start": 14441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.14128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ala4710Thr",
        "hgvsWellDefined": "XP_006711873.1:p.Ala4710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14514,
          "referenceAllele": "G",
          "start": 14513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.14200G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Ala4734Thr",
        "hgvsWellDefined": "XP_016857517.1:p.Ala4734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132940",
      "coordinates": [
        {
          "allele": "A",
          "end": 14505,
          "referenceAllele": "G",
          "start": 14504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.14167G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ala4723Thr",
        "hgvsWellDefined": "NP_001026.2:p.Ala4723Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14167G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14167G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ala4723Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ala4723Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}