{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA009434",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45403[alleleid]",
        "alleleId": 45403,
        "preferredName": "NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36742",
        "RCV": [
          "RCV000223835",
          "RCV001189912",
          "RCV001841542"
        ],
        "variationId": 36742
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237754172T>G?assembly=hg19",
        "id": "chr1:g.237754172T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237590872T>G?assembly=hg38",
        "id": "chr1:g.237590872T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922625",
        "rs": 193922625
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237590872-T-G?dataset=gnomad_r3",
        "id": "1-237590872-T-G",
        "variant": "1:237590872 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237590872-T-G?dataset=gnomad_r4",
        "id": "1-237590872-T-G",
        "variant": "1:237590872 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237590872,
          "referenceAllele": "T",
          "start": 237590871
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237590872T>G",
        "CM000663.2:g.237590872T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237754172,
          "referenceAllele": "T",
          "start": 237754171
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237754172T>G",
        "CM000663.1:g.237754172T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235820795,
          "referenceAllele": "T",
          "start": 235820794
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235820795T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553471,
          "referenceAllele": "T",
          "start": 553470
        }
      ],
      "hgvs": [
        "NG_008799.2:g.553471T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553689,
          "referenceAllele": "T",
          "start": 553688
        }
      ],
      "hgvs": [
        "NG_008799.3:g.553689T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Met1347Arg",
        "hgvsWellDefined": "ENSP00000499659.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Met1347Arg",
        "hgvsWellDefined": "ENSP00000499653.3:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Met1347Arg",
        "hgvsWellDefined": "ENSP00000499787.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met1347Arg",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4040T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4040T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met1347Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met1347Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3992,
          "referenceAllele": "T",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.3992T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Met1331Arg",
        "hgvsWellDefined": "ENSP00000353174.7:p.Met1331Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4357,
          "referenceAllele": "T",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met1347Arg",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214225",
      "coordinates": [
        {
          "allele": "G",
          "end": 4160,
          "referenceAllele": "T",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met1347Arg",
        "hgvsWellDefined": "NP_001026.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4281,
          "referenceAllele": "T",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711865.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4278,
          "referenceAllele": "T",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.4037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met1346Arg",
        "hgvsWellDefined": "XP_006711866.1:p.Met1346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4280,
          "referenceAllele": "T",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711867.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4276,
          "referenceAllele": "T",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711868.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4281,
          "referenceAllele": "T",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711869.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4281,
          "referenceAllele": "T",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711870.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4279,
          "referenceAllele": "T",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711871.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4324,
          "referenceAllele": "T",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711872.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4277,
          "referenceAllele": "T",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.4037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met1346Arg",
        "hgvsWellDefined": "XP_006711873.1:p.Met1346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4321,
          "referenceAllele": "T",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.4321T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711865.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4351,
          "referenceAllele": "T",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.4037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met1346Arg",
        "hgvsWellDefined": "XP_006711866.1:p.Met1346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711867.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711868.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711869.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711870.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met1347Arg",
        "hgvsWellDefined": "XP_006711871.1:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4351,
          "referenceAllele": "T",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.4037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met1346Arg",
        "hgvsWellDefined": "XP_006711873.1:p.Met1346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4333,
          "referenceAllele": "T",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.4019T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Met1340Arg",
        "hgvsWellDefined": "XP_016857517.1:p.Met1340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.4354T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4354,
          "referenceAllele": "T",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.4354T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214225",
      "coordinates": [
        {
          "allele": "G",
          "end": 4378,
          "referenceAllele": "T",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.4040T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met1347Arg",
        "hgvsWellDefined": "NP_001026.2:p.Met1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.4040T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.4040T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met1347Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met1347Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}