{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007513",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3400494",
        "active": true,
        "id": "COSM3400494"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3400495",
        "active": true,
        "id": "COSM3400495"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196538[alleleid]",
        "alleleId": 196538,
        "preferredName": "NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201212",
        "RCV": [
          "RCV000182678",
          "RCV000251690",
          "RCV001186513",
          "RCV002516868"
        ],
        "variationId": 201212
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237608770-C-T",
        "id": "1-237608770-C-T",
        "variant": "1:237608770 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237608770C>T?assembly=hg19",
        "id": "chr1:g.237608770C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237445470C>T?assembly=hg38",
        "id": "chr1:g.237445470C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764698152",
        "rs": 764698152
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237445470-C-T?dataset=gnomad_r3",
        "id": "1-237445470-C-T",
        "variant": "1:237445470 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237445470-C-T?dataset=gnomad_r4",
        "id": "1-237445470-C-T",
        "variant": "1:237445470 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237445470,
          "referenceAllele": "C",
          "start": 237445469
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237445470C>T",
        "CM000663.2:g.237445470C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237608770,
          "referenceAllele": "C",
          "start": 237608769
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237608770C>T",
        "CM000663.1:g.237608770C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235675393,
          "referenceAllele": "C",
          "start": 235675392
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235675393C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408069,
          "referenceAllele": "C",
          "start": 408068
        }
      ],
      "hgvs": [
        "NG_008799.2:g.408069C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408287,
          "referenceAllele": "C",
          "start": 408286
        }
      ],
      "hgvs": [
        "NG_008799.3:g.408287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000499659.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000499653.3:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000499787.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000355533.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1240C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1240C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Arg414Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Arg414Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Arg398Cys",
        "hgvsWellDefined": "ENSP00000353174.7:p.Arg398Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000355533.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306817",
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Arg414Cys",
        "hgvsWellDefined": "NP_001026.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711865.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711866.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711867.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711868.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711869.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711870.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711871.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711872.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711873.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.1521C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711865.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711866.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711867.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711868.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711869.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711870.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711871.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Arg414Cys",
        "hgvsWellDefined": "XP_006711873.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.1219C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Arg407Cys",
        "hgvsWellDefined": "XP_016857517.1:p.Arg407Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.1554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.1554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306817",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Arg414Cys",
        "hgvsWellDefined": "NP_001026.2:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.1240C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.1240C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Arg414Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Arg414Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}