{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345654711",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.256G>A (p.Val86Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=54366",
        "active": true,
        "id": "COSM54366"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=906509[alleleid]",
        "alleleId": 906509,
        "preferredName": "NM_001035.3(RYR2):c.256G>A (p.Val86Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/925012",
        "RCV": [
          "RCV001186746",
          "RCV002559945"
        ],
        "variationId": 925012
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237494265G>A?assembly=hg19",
        "id": "chr1:g.237494265G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237330965G>A?assembly=hg38",
        "id": "chr1:g.237330965G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1217618479",
        "rs": 1217618479
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237494265-G-A?dataset=gnomad_r2_1",
        "id": "1-237494265-G-A",
        "variant": "1:237494265 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237330965-G-A?dataset=gnomad_r3",
        "id": "1-237330965-G-A",
        "variant": "1:237330965 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237330965-G-A?dataset=gnomad_r4",
        "id": "1-237330965-G-A",
        "variant": "1:237330965 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237330965,
          "referenceAllele": "G",
          "start": 237330964
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237330965G>A",
        "CM000663.2:g.237330965G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237494265,
          "referenceAllele": "G",
          "start": 237494264
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237494265G>A",
        "CM000663.1:g.237494265G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235560888,
          "referenceAllele": "G",
          "start": 235560887
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235560888G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293564,
          "referenceAllele": "G",
          "start": 293563
        }
      ],
      "hgvs": [
        "NG_008799.2:g.293564G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293782,
          "referenceAllele": "G",
          "start": 293781
        }
      ],
      "hgvs": [
        "NG_008799.3:g.293782G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Val86Met",
        "hgvsWellDefined": "ENSP00000499659.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Val86Met",
        "hgvsWellDefined": "ENSP00000499653.3:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Val86Met",
        "hgvsWellDefined": "ENSP00000499787.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val86Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.256G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.256G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val86Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val86Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Val70Met",
        "hgvsWellDefined": "ENSP00000353174.7:p.Val70Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Val86Met",
        "hgvsWellDefined": "ENSP00000355533.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687008",
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val86Met",
        "hgvsWellDefined": "NP_001026.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711865.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711866.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711867.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711868.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711869.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711870.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711871.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711872.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711873.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711865.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711866.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711867.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711868.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711869.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711870.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711871.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Val86Met",
        "hgvsWellDefined": "XP_006711873.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Val86Met",
        "hgvsWellDefined": "XP_016857517.1:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.570G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.570G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687008",
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.256G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Val86Met",
        "hgvsWellDefined": "NP_001026.2:p.Val86Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.256G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.256G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Val86Met"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Val86Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}