{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345410102",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414782[alleleid]",
        "alleleId": 414782,
        "preferredName": "NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427164",
        "RCV": [
          "RCV000490203",
          "RCV002523420"
        ],
        "variationId": 427164
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237944898A>G?assembly=hg19",
        "id": "chr1:g.237944898A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237781598A>G?assembly=hg38",
        "id": "chr1:g.237781598A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307997",
        "rs": 1085307997
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237781598,
          "referenceAllele": "A",
          "start": 237781597
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237781598A>G",
        "CM000663.2:g.237781598A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237944898,
          "referenceAllele": "A",
          "start": 237944897
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237944898A>G",
        "CM000663.1:g.237944898A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236011521,
          "referenceAllele": "A",
          "start": 236011520
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236011521A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744197,
          "referenceAllele": "A",
          "start": 744196
        }
      ],
      "hgvs": [
        "NG_008799.2:g.744197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744415,
          "referenceAllele": "A",
          "start": 744414
        }
      ],
      "hgvs": [
        "NG_008799.3:g.744415A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12194,
          "referenceAllele": "A",
          "start": 12193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3006A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3006A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12240,
          "referenceAllele": "A",
          "start": 12239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.11902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Met3968Val",
        "hgvsWellDefined": "ENSP00000499653.3:p.Met3968Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12273,
          "referenceAllele": "A",
          "start": 12272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.11935A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Met3979Val",
        "hgvsWellDefined": "ENSP00000499787.2:p.Met3979Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4091,
          "referenceAllele": "A",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4091A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12252,
          "referenceAllele": "A",
          "start": 12251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.11914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met3972Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met3972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11914A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11914A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met3972Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met3972Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4091,
          "referenceAllele": "A",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4091A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1967,
          "referenceAllele": "A",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.1967A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11866,
          "referenceAllele": "A",
          "start": 11865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11866A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Met3956Val",
        "hgvsWellDefined": "ENSP00000353174.7:p.Met3956Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12231,
          "referenceAllele": "A",
          "start": 12230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.11914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Met3972Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Met3972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3109,
          "referenceAllele": "A",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3109A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390828",
      "coordinates": [
        {
          "allele": "G",
          "end": 12034,
          "referenceAllele": "A",
          "start": 12033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.11914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met3972Val",
        "hgvsWellDefined": "NP_001026.2:p.Met3972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12209,
          "referenceAllele": "A",
          "start": 12208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.11968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met3990Val",
        "hgvsWellDefined": "XP_006711865.1:p.Met3990Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12206,
          "referenceAllele": "A",
          "start": 12205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.11965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met3989Val",
        "hgvsWellDefined": "XP_006711866.1:p.Met3989Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12184,
          "referenceAllele": "A",
          "start": 12183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.11944A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met3982Val",
        "hgvsWellDefined": "XP_006711867.1:p.Met3982Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12174,
          "referenceAllele": "A",
          "start": 12173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.11938A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met3980Val",
        "hgvsWellDefined": "XP_006711868.1:p.Met3980Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12173,
          "referenceAllele": "A",
          "start": 12172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.11932A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met3978Val",
        "hgvsWellDefined": "XP_006711869.1:p.Met3978Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12149,
          "referenceAllele": "A",
          "start": 12148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.11908A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met3970Val",
        "hgvsWellDefined": "XP_006711870.1:p.Met3970Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11970,
          "referenceAllele": "A",
          "start": 11969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11731A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met3911Val",
        "hgvsWellDefined": "XP_006711871.1:p.Met3911Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12115,
          "referenceAllele": "A",
          "start": 12114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.11875A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met3959Val",
        "hgvsWellDefined": "XP_006711873.1:p.Met3959Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12282,
          "referenceAllele": "A",
          "start": 12281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.11968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Met3990Val",
        "hgvsWellDefined": "XP_006711865.1:p.Met3990Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12279,
          "referenceAllele": "A",
          "start": 12278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.11965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Met3989Val",
        "hgvsWellDefined": "XP_006711866.1:p.Met3989Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12258,
          "referenceAllele": "A",
          "start": 12257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.11944A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Met3982Val",
        "hgvsWellDefined": "XP_006711867.1:p.Met3982Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12252,
          "referenceAllele": "A",
          "start": 12251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.11938A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Met3980Val",
        "hgvsWellDefined": "XP_006711868.1:p.Met3980Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12246,
          "referenceAllele": "A",
          "start": 12245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.11932A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Met3978Val",
        "hgvsWellDefined": "XP_006711869.1:p.Met3978Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12222,
          "referenceAllele": "A",
          "start": 12221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.11908A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Met3970Val",
        "hgvsWellDefined": "XP_006711870.1:p.Met3970Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12045,
          "referenceAllele": "A",
          "start": 12044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11731A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Met3911Val",
        "hgvsWellDefined": "XP_006711871.1:p.Met3911Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12189,
          "referenceAllele": "A",
          "start": 12188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.11875A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Met3959Val",
        "hgvsWellDefined": "XP_006711873.1:p.Met3959Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12261,
          "referenceAllele": "A",
          "start": 12260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.11947A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Met3983Val",
        "hgvsWellDefined": "XP_016857517.1:p.Met3983Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390828",
      "coordinates": [
        {
          "allele": "G",
          "end": 12252,
          "referenceAllele": "A",
          "start": 12251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.11914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Met3972Val",
        "hgvsWellDefined": "NP_001026.2:p.Met3972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11914A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11914A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Met3972Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Met3972Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}