{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345409688",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627613[alleleid]",
        "alleleId": 627613,
        "preferredName": "NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/651491",
        "RCV": [
          "RCV002537232"
        ],
        "variationId": 651491
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237993857A>C?assembly=hg19",
        "id": "chr1:g.237993857A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237830557A>C?assembly=hg38",
        "id": "chr1:g.237830557A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1185619003",
        "rs": 1185619003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237830557,
          "referenceAllele": "A",
          "start": 237830556
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237830557A>C",
        "CM000663.2:g.237830557A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237993857,
          "referenceAllele": "A",
          "start": 237993856
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237993857A>C",
        "CM000663.1:g.237993857A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 236060480,
          "referenceAllele": "A",
          "start": 236060479
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236060480A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 793156,
          "referenceAllele": "A",
          "start": 793155
        }
      ],
      "hgvs": [
        "NG_008799.2:g.793156A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 793374,
          "referenceAllele": "A",
          "start": 793373
        }
      ],
      "hgvs": [
        "NG_008799.3:g.793374A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14963,
          "referenceAllele": "A",
          "start": 14962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*5775A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*5775A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15003,
          "referenceAllele": "A",
          "start": 15002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.14665A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Asn4889His",
        "hgvsWellDefined": "ENSP00000499653.3:p.Asn4889His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15042,
          "referenceAllele": "A",
          "start": 15041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.14704A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Asn4902His",
        "hgvsWellDefined": "ENSP00000499787.2:p.Asn4902His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6854,
          "referenceAllele": "A",
          "start": 6853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.6854A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15021,
          "referenceAllele": "A",
          "start": 15020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.14683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4895His",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4895His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14683A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14683A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4895His"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4895His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14632,
          "referenceAllele": "A",
          "start": 14631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.14632A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Asn4878His",
        "hgvsWellDefined": "ENSP00000353174.7:p.Asn4878His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15000,
          "referenceAllele": "A",
          "start": 14999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.14683A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4895His",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4895His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000462585.1:n.526A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "A",
          "start": 1166,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000608590.5:n.1167-957A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953973",
      "coordinates": [
        {
          "allele": "C",
          "end": 14803,
          "referenceAllele": "A",
          "start": 14802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.14683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4895His",
        "hgvsWellDefined": "NP_001026.2:p.Asn4895His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14978,
          "referenceAllele": "A",
          "start": 14977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.14737A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4913His",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4913His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14975,
          "referenceAllele": "A",
          "start": 14974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.14734A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4912His",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4912His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14953,
          "referenceAllele": "A",
          "start": 14952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.14713A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4905His",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4905His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14943,
          "referenceAllele": "A",
          "start": 14942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.14707A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4903His",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14942,
          "referenceAllele": "A",
          "start": 14941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.14701A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4901His",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14918,
          "referenceAllele": "A",
          "start": 14917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.14677A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4893His",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4893His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14739,
          "referenceAllele": "A",
          "start": 14738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.14500A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4834His",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4834His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14884,
          "referenceAllele": "A",
          "start": 14883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.14644A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4882His",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4882His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15051,
          "referenceAllele": "A",
          "start": 15050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.14737A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4913His",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4913His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15048,
          "referenceAllele": "A",
          "start": 15047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.14734A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4912His",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4912His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15027,
          "referenceAllele": "A",
          "start": 15026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.14713A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4905His",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4905His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15021,
          "referenceAllele": "A",
          "start": 15020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.14707A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4903His",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4903His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15015,
          "referenceAllele": "A",
          "start": 15014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.14701A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4901His",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4901His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14991,
          "referenceAllele": "A",
          "start": 14990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.14677A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4893His",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4893His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14814,
          "referenceAllele": "A",
          "start": 14813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.14500A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4834His",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4834His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14958,
          "referenceAllele": "A",
          "start": 14957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.14644A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4882His",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4882His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15030,
          "referenceAllele": "A",
          "start": 15029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.14716A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Asn4906His",
        "hgvsWellDefined": "XP_016857517.1:p.Asn4906His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953973",
      "coordinates": [
        {
          "allele": "C",
          "end": 15021,
          "referenceAllele": "A",
          "start": 15020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.14683A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4895His",
        "hgvsWellDefined": "NP_001026.2:p.Asn4895His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.14683A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.14683A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4895His"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4895His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}