{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA085118",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=447662[alleleid]",
        "alleleId": 447662,
        "preferredName": "NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463552",
        "RCV": [
          "RCV001185994",
          "RCV002527787",
          "RCV002350253",
          "RCV003999090"
        ],
        "variationId": 463552
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237947088-T-G",
        "id": "1-237947088-T-G",
        "variant": "1:237947088 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947088T>G?assembly=hg19",
        "id": "chr1:g.237947088T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237783788T>G?assembly=hg38",
        "id": "chr1:g.237783788T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765141566",
        "rs": 765141566
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237947088-T-G?dataset=gnomad_r2_1",
        "id": "1-237947088-T-G",
        "variant": "1:237947088 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237783788-T-G?dataset=gnomad_r3",
        "id": "1-237783788-T-G",
        "variant": "1:237783788 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237783788-T-G?dataset=gnomad_r4",
        "id": "1-237783788-T-G",
        "variant": "1:237783788 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237783788,
          "referenceAllele": "T",
          "start": 237783787
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237783788T>G",
        "CM000663.2:g.237783788T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237947088,
          "referenceAllele": "T",
          "start": 237947087
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947088T>G",
        "CM000663.1:g.237947088T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236013711,
          "referenceAllele": "T",
          "start": 236013710
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236013711T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746387,
          "referenceAllele": "T",
          "start": 746386
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746387T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746605,
          "referenceAllele": "T",
          "start": 746604
        }
      ],
      "hgvs": [
        "NG_008799.3:g.746605T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12356,
          "referenceAllele": "T",
          "start": 12355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3168T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3168T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12402,
          "referenceAllele": "T",
          "start": 12401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12064T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Leu4022Val",
        "hgvsWellDefined": "ENSP00000499653.3:p.Leu4022Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12435,
          "referenceAllele": "T",
          "start": 12434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12097T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Leu4033Val",
        "hgvsWellDefined": "ENSP00000499787.2:p.Leu4033Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4253,
          "referenceAllele": "T",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4253T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12414,
          "referenceAllele": "T",
          "start": 12413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12076T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Leu4026Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Leu4026Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12076T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12076T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Leu4026Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Leu4026Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4253,
          "referenceAllele": "T",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4253T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "T",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2129T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12028,
          "referenceAllele": "T",
          "start": 12027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.12028T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Leu4010Val",
        "hgvsWellDefined": "ENSP00000353174.7:p.Leu4010Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12393,
          "referenceAllele": "T",
          "start": 12392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12076T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Leu4026Val",
        "hgvsWellDefined": "ENSP00000355533.2:p.Leu4026Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3271,
          "referenceAllele": "T",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3271T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681844",
      "coordinates": [
        {
          "allele": "G",
          "end": 12196,
          "referenceAllele": "T",
          "start": 12195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12076T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Leu4026Val",
        "hgvsWellDefined": "NP_001026.2:p.Leu4026Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12371,
          "referenceAllele": "T",
          "start": 12370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12130T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Leu4044Val",
        "hgvsWellDefined": "XP_006711865.1:p.Leu4044Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12368,
          "referenceAllele": "T",
          "start": 12367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12127T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Leu4043Val",
        "hgvsWellDefined": "XP_006711866.1:p.Leu4043Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12346,
          "referenceAllele": "T",
          "start": 12345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12106T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Leu4036Val",
        "hgvsWellDefined": "XP_006711867.1:p.Leu4036Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12336,
          "referenceAllele": "T",
          "start": 12335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12100T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Leu4034Val",
        "hgvsWellDefined": "XP_006711868.1:p.Leu4034Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12335,
          "referenceAllele": "T",
          "start": 12334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12094T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Leu4032Val",
        "hgvsWellDefined": "XP_006711869.1:p.Leu4032Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12311,
          "referenceAllele": "T",
          "start": 12310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12070T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Leu4024Val",
        "hgvsWellDefined": "XP_006711870.1:p.Leu4024Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12132,
          "referenceAllele": "T",
          "start": 12131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11893T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Leu3965Val",
        "hgvsWellDefined": "XP_006711871.1:p.Leu3965Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12277,
          "referenceAllele": "T",
          "start": 12276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Leu4013Val",
        "hgvsWellDefined": "XP_006711873.1:p.Leu4013Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12444,
          "referenceAllele": "T",
          "start": 12443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12130T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Leu4044Val",
        "hgvsWellDefined": "XP_006711865.1:p.Leu4044Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12441,
          "referenceAllele": "T",
          "start": 12440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12127T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Leu4043Val",
        "hgvsWellDefined": "XP_006711866.1:p.Leu4043Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12420,
          "referenceAllele": "T",
          "start": 12419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12106T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Leu4036Val",
        "hgvsWellDefined": "XP_006711867.1:p.Leu4036Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12414,
          "referenceAllele": "T",
          "start": 12413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12100T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Leu4034Val",
        "hgvsWellDefined": "XP_006711868.1:p.Leu4034Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12408,
          "referenceAllele": "T",
          "start": 12407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12094T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Leu4032Val",
        "hgvsWellDefined": "XP_006711869.1:p.Leu4032Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12384,
          "referenceAllele": "T",
          "start": 12383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12070T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Leu4024Val",
        "hgvsWellDefined": "XP_006711870.1:p.Leu4024Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12207,
          "referenceAllele": "T",
          "start": 12206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11893T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Leu3965Val",
        "hgvsWellDefined": "XP_006711871.1:p.Leu3965Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12351,
          "referenceAllele": "T",
          "start": 12350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12037T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Leu4013Val",
        "hgvsWellDefined": "XP_006711873.1:p.Leu4013Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12423,
          "referenceAllele": "T",
          "start": 12422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12109T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Leu4037Val",
        "hgvsWellDefined": "XP_016857517.1:p.Leu4037Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681844",
      "coordinates": [
        {
          "allele": "G",
          "end": 12414,
          "referenceAllele": "T",
          "start": 12413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12076T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Leu4026Val",
        "hgvsWellDefined": "NP_001026.2:p.Leu4026Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12076T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12076T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Leu4026Val"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Leu4026Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}