{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA085169",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=616081[alleleid]",
        "alleleId": 616081,
        "preferredName": "NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/629337",
        "RCV": [
          "RCV000774039",
          "RCV002534110",
          "RCV003317362",
          "RCV004001343",
          "RCV004027260"
        ],
        "variationId": 629337
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237947343-A-C",
        "id": "1-237947343-A-C",
        "variant": "1:237947343 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947343A>C?assembly=hg19",
        "id": "chr1:g.237947343A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237784043A>C?assembly=hg38",
        "id": "chr1:g.237784043A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/192890834",
        "rs": 192890834
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237947343-A-C?dataset=gnomad_r2_1",
        "id": "1-237947343-A-C",
        "variant": "1:237947343 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237784043-A-C?dataset=gnomad_r3",
        "id": "1-237784043-A-C",
        "variant": "1:237784043 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237784043-A-C?dataset=gnomad_r4",
        "id": "1-237784043-A-C",
        "variant": "1:237784043 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237784043,
          "referenceAllele": "A",
          "start": 237784042
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237784043A>C",
        "CM000663.2:g.237784043A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 237947343,
          "referenceAllele": "A",
          "start": 237947342
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947343A>C",
        "CM000663.1:g.237947343A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 236013966,
          "referenceAllele": "A",
          "start": 236013965
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236013966A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 746642,
          "referenceAllele": "A",
          "start": 746641
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746642A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 746860,
          "referenceAllele": "A",
          "start": 746859
        }
      ],
      "hgvs": [
        "NG_008799.3:g.746860A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12611,
          "referenceAllele": "A",
          "start": 12610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3423A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3423A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12657,
          "referenceAllele": "A",
          "start": 12656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12319A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Asn4107His",
        "hgvsWellDefined": "ENSP00000499653.3:p.Asn4107His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12690,
          "referenceAllele": "A",
          "start": 12689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12352A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Asn4118His",
        "hgvsWellDefined": "ENSP00000499787.2:p.Asn4118His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4508,
          "referenceAllele": "A",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4508A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12669,
          "referenceAllele": "A",
          "start": 12668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12331A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4111His",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12331A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12331A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4111His"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4111His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4508,
          "referenceAllele": "A",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4508A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2384,
          "referenceAllele": "A",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2384A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12283,
          "referenceAllele": "A",
          "start": 12282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.12283A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Asn4095His",
        "hgvsWellDefined": "ENSP00000353174.7:p.Asn4095His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12648,
          "referenceAllele": "A",
          "start": 12647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12331A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4111His",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3526,
          "referenceAllele": "A",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3526A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193388",
      "coordinates": [
        {
          "allele": "C",
          "end": 12451,
          "referenceAllele": "A",
          "start": 12450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12331A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4111His",
        "hgvsWellDefined": "NP_001026.2:p.Asn4111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12626,
          "referenceAllele": "A",
          "start": 12625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12385A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4129His",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12623,
          "referenceAllele": "A",
          "start": 12622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12382A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4128His",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4128His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12601,
          "referenceAllele": "A",
          "start": 12600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12361A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4121His",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4121His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12591,
          "referenceAllele": "A",
          "start": 12590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12355A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4119His",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4119His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12590,
          "referenceAllele": "A",
          "start": 12589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12349A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4117His",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4117His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12566,
          "referenceAllele": "A",
          "start": 12565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12325A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4109His",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4109His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12387,
          "referenceAllele": "A",
          "start": 12386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.12148A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4050His",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4050His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12532,
          "referenceAllele": "A",
          "start": 12531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12292A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4098His",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4098His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12699,
          "referenceAllele": "A",
          "start": 12698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12385A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4129His",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12696,
          "referenceAllele": "A",
          "start": 12695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12382A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4128His",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4128His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12675,
          "referenceAllele": "A",
          "start": 12674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12361A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4121His",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4121His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12669,
          "referenceAllele": "A",
          "start": 12668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12355A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4119His",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4119His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12663,
          "referenceAllele": "A",
          "start": 12662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12349A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4117His",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4117His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12639,
          "referenceAllele": "A",
          "start": 12638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12325A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4109His",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4109His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12462,
          "referenceAllele": "A",
          "start": 12461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.12148A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4050His",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4050His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12606,
          "referenceAllele": "A",
          "start": 12605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12292A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4098His",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4098His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12678,
          "referenceAllele": "A",
          "start": 12677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12364A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Asn4122His",
        "hgvsWellDefined": "XP_016857517.1:p.Asn4122His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193388",
      "coordinates": [
        {
          "allele": "C",
          "end": 12669,
          "referenceAllele": "A",
          "start": 12668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12331A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4111His",
        "hgvsWellDefined": "NP_001026.2:p.Asn4111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12331A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12331A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4111His"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4111His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}