{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008550",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196549[alleleid]",
        "alleleId": 196549,
        "preferredName": "NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201220",
        "RCV": [
          "RCV000182687",
          "RCV001804914",
          "RCV003765127",
          "RCV002399660"
        ],
        "variationId": 201220
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237632454-A-G",
        "id": "1-237632454-A-G",
        "variant": "1:237632454 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237632454A>G?assembly=hg19",
        "id": "chr1:g.237632454A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237469154A>G?assembly=hg38",
        "id": "chr1:g.237469154A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773609522",
        "rs": 773609522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237632454-A-G?dataset=gnomad_r2_1",
        "id": "1-237632454-A-G",
        "variant": "1:237632454 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237469154-A-G?dataset=gnomad_r4",
        "id": "1-237469154-A-G",
        "variant": "1:237469154 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237469154,
          "referenceAllele": "A",
          "start": 237469153
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237469154A>G",
        "CM000663.2:g.237469154A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237632454,
          "referenceAllele": "A",
          "start": 237632453
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237632454A>G",
        "CM000663.1:g.237632454A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235699077,
          "referenceAllele": "A",
          "start": 235699076
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235699077A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431753,
          "referenceAllele": "A",
          "start": 431752
        }
      ],
      "hgvs": [
        "NG_008799.2:g.431753A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431971,
          "referenceAllele": "A",
          "start": 431970
        }
      ],
      "hgvs": [
        "NG_008799.3:g.431971A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Ile559Val",
        "hgvsWellDefined": "ENSP00000499659.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Ile559Val",
        "hgvsWellDefined": "ENSP00000499653.3:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Ile559Val",
        "hgvsWellDefined": "ENSP00000499787.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile559Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1675A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1675A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile559Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile559Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1627,
          "referenceAllele": "A",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.1627A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Ile543Val",
        "hgvsWellDefined": "ENSP00000353174.7:p.Ile543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "A",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Ile559Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306823",
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "A",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile559Val",
        "hgvsWellDefined": "NP_001026.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711865.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711866.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711867.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1911,
          "referenceAllele": "A",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711868.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711869.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "A",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711870.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1914,
          "referenceAllele": "A",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711871.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1959,
          "referenceAllele": "A",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711872.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711873.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1956,
          "referenceAllele": "A",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.1956A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711865.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711866.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711867.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711868.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711869.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711870.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711871.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Ile559Val",
        "hgvsWellDefined": "XP_006711873.1:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "A",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.1654A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Ile552Val",
        "hgvsWellDefined": "XP_016857517.1:p.Ile552Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.1989A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.1989A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306823",
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.1675A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Ile559Val",
        "hgvsWellDefined": "NP_001026.2:p.Ile559Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1675A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1675A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Ile559Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Ile559Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}