{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA086525",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=279964[alleleid]",
        "alleleId": 279964,
        "preferredName": "NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/296722",
        "RCV": [
          "RCV000308159",
          "RCV000605932",
          "RCV000617753",
          "RCV000777776",
          "RCV001532584",
          "RCV001093870",
          "RCV003995814"
        ],
        "variationId": 296722
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237754176-G-A",
        "id": "1-237754176-G-A",
        "variant": "1:237754176 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237754176G>A?assembly=hg19",
        "id": "chr1:g.237754176G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237590876G>A?assembly=hg38",
        "id": "chr1:g.237590876G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755391572",
        "rs": 755391572
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237754176-G-A?dataset=gnomad_r2_1",
        "id": "1-237754176-G-A",
        "variant": "1:237754176 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237590876-G-A?dataset=gnomad_r3",
        "id": "1-237590876-G-A",
        "variant": "1:237590876 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237590876-G-A?dataset=gnomad_r4",
        "id": "1-237590876-G-A",
        "variant": "1:237590876 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237590876,
          "referenceAllele": "G",
          "start": 237590875
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237590876G>A",
        "CM000663.2:g.237590876G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237754176,
          "referenceAllele": "G",
          "start": 237754175
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237754176G>A",
        "CM000663.1:g.237754176G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235820799,
          "referenceAllele": "G",
          "start": 235820798
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235820799G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553475,
          "referenceAllele": "G",
          "start": 553474
        }
      ],
      "hgvs": [
        "NG_008799.2:g.553475G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553693,
          "referenceAllele": "G",
          "start": 553692
        }
      ],
      "hgvs": [
        "NG_008799.3:g.553693G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Lys1348="
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Lys1348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "G",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.3996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Lys1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4361,
          "referenceAllele": "G",
          "start": 4360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825352149",
      "coordinates": [
        {
          "allele": "A",
          "end": 4164,
          "referenceAllele": "G",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4282,
          "referenceAllele": "G",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.4041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Lys1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "referenceAllele": "G",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4280,
          "referenceAllele": "G",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4283,
          "referenceAllele": "G",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4328,
          "referenceAllele": "G",
          "start": 4327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4281,
          "referenceAllele": "G",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.4041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Lys1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4325,
          "referenceAllele": "G",
          "start": 4324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.4325G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4355,
          "referenceAllele": "G",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.4041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Lys1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4355,
          "referenceAllele": "G",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.4041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Lys1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.4023G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Lys1341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.4358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.4358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825352149",
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Lys1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Lys1348="
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Lys1348="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}