{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008032",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196735[alleleid]",
        "alleleId": 196735,
        "preferredName": "NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201403",
        "RCV": [
          "RCV000182893"
        ],
        "variationId": 201403
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237955576C>T?assembly=hg19",
        "id": "chr1:g.237955576C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237792276C>T?assembly=hg38",
        "id": "chr1:g.237792276C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728830",
        "rs": 794728830
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237792276,
          "referenceAllele": "C",
          "start": 237792275
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237792276C>T",
        "CM000663.2:g.237792276C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237955576,
          "referenceAllele": "C",
          "start": 237955575
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237955576C>T",
        "CM000663.1:g.237955576C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 236022199,
          "referenceAllele": "C",
          "start": 236022198
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236022199C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754875,
          "referenceAllele": "C",
          "start": 754874
        }
      ],
      "hgvs": [
        "NG_008799.2:g.754875C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755093,
          "referenceAllele": "C",
          "start": 755092
        }
      ],
      "hgvs": [
        "NG_008799.3:g.755093C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14015,
          "referenceAllele": "C",
          "start": 14014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*4827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*4827C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14055,
          "referenceAllele": "C",
          "start": 14054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.13717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.His4573Tyr",
        "hgvsWellDefined": "ENSP00000499653.3:p.His4573Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14094,
          "referenceAllele": "C",
          "start": 14093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.13756C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.His4586Tyr",
        "hgvsWellDefined": "ENSP00000499787.2:p.His4586Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5906,
          "referenceAllele": "C",
          "start": 5905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.5906C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14073,
          "referenceAllele": "C",
          "start": 14072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.13735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.His4579Tyr",
        "hgvsWellDefined": "ENSP00000355533.2:p.His4579Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.13735C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.13735C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.His4579Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.His4579Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3788,
          "referenceAllele": "C",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.3788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13684,
          "referenceAllele": "C",
          "start": 13683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.13684C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.His4562Tyr",
        "hgvsWellDefined": "ENSP00000353174.7:p.His4562Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14052,
          "referenceAllele": "C",
          "start": 14051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.13735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.His4579Tyr",
        "hgvsWellDefined": "ENSP00000355533.2:p.His4579Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.246C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA307004",
      "coordinates": [
        {
          "allele": "T",
          "end": 13855,
          "referenceAllele": "C",
          "start": 13854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.13735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.His4579Tyr",
        "hgvsWellDefined": "NP_001026.2:p.His4579Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14030,
          "referenceAllele": "C",
          "start": 14029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.13789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.His4597Tyr",
        "hgvsWellDefined": "XP_006711865.1:p.His4597Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14027,
          "referenceAllele": "C",
          "start": 14026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.13786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.His4596Tyr",
        "hgvsWellDefined": "XP_006711866.1:p.His4596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14005,
          "referenceAllele": "C",
          "start": 14004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.13765C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.His4589Tyr",
        "hgvsWellDefined": "XP_006711867.1:p.His4589Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13995,
          "referenceAllele": "C",
          "start": 13994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.13759C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.His4587Tyr",
        "hgvsWellDefined": "XP_006711868.1:p.His4587Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13994,
          "referenceAllele": "C",
          "start": 13993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.13753C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.His4585Tyr",
        "hgvsWellDefined": "XP_006711869.1:p.His4585Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13970,
          "referenceAllele": "C",
          "start": 13969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.13729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.His4577Tyr",
        "hgvsWellDefined": "XP_006711870.1:p.His4577Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13791,
          "referenceAllele": "C",
          "start": 13790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.13552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.His4518Tyr",
        "hgvsWellDefined": "XP_006711871.1:p.His4518Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13936,
          "referenceAllele": "C",
          "start": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.13696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.His4566Tyr",
        "hgvsWellDefined": "XP_006711873.1:p.His4566Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14103,
          "referenceAllele": "C",
          "start": 14102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.13789C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.His4597Tyr",
        "hgvsWellDefined": "XP_006711865.1:p.His4597Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14100,
          "referenceAllele": "C",
          "start": 14099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.13786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.His4596Tyr",
        "hgvsWellDefined": "XP_006711866.1:p.His4596Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14079,
          "referenceAllele": "C",
          "start": 14078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.13765C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.His4589Tyr",
        "hgvsWellDefined": "XP_006711867.1:p.His4589Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14073,
          "referenceAllele": "C",
          "start": 14072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.13759C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.His4587Tyr",
        "hgvsWellDefined": "XP_006711868.1:p.His4587Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14067,
          "referenceAllele": "C",
          "start": 14066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.13753C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.His4585Tyr",
        "hgvsWellDefined": "XP_006711869.1:p.His4585Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14043,
          "referenceAllele": "C",
          "start": 14042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.13729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.His4577Tyr",
        "hgvsWellDefined": "XP_006711870.1:p.His4577Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13866,
          "referenceAllele": "C",
          "start": 13865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.13552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.His4518Tyr",
        "hgvsWellDefined": "XP_006711871.1:p.His4518Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14010,
          "referenceAllele": "C",
          "start": 14009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.13696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.His4566Tyr",
        "hgvsWellDefined": "XP_006711873.1:p.His4566Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14082,
          "referenceAllele": "C",
          "start": 14081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.13768C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.His4590Tyr",
        "hgvsWellDefined": "XP_016857517.1:p.His4590Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA307004",
      "coordinates": [
        {
          "allele": "T",
          "end": 14073,
          "referenceAllele": "C",
          "start": 14072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.13735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.His4579Tyr",
        "hgvsWellDefined": "NP_001026.2:p.His4579Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.13735C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.13735C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.His4579Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.His4579Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}