{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010841",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=906223",
        "active": true,
        "id": "COSM906223"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178456[alleleid]",
        "alleleId": 178456,
        "preferredName": "NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180497",
        "RCV": [
          "RCV000157460",
          "RCV000171765",
          "RCV000212982",
          "RCV000618062",
          "RCV001095883",
          "RCV001095882",
          "RCV000769797",
          "RCV003998341"
        ],
        "variationId": 180497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-237821259-G-T",
        "id": "1-237821259-G-T",
        "variant": "1:237821259 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237821259G>T?assembly=hg19",
        "id": "chr1:g.237821259G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237657959G>T?assembly=hg38",
        "id": "chr1:g.237657959G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200420897",
        "rs": 200420897
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237821259-G-T?dataset=gnomad_r2_1",
        "id": "1-237821259-G-T",
        "variant": "1:237821259 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237657959-G-T?dataset=gnomad_r3",
        "id": "1-237657959-G-T",
        "variant": "1:237657959 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237657959-G-T?dataset=gnomad_r4",
        "id": "1-237657959-G-T",
        "variant": "1:237657959 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237657959,
          "referenceAllele": "G",
          "start": 237657958
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237657959G>T",
        "CM000663.2:g.237657959G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 237821259,
          "referenceAllele": "G",
          "start": 237821258
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237821259G>T",
        "CM000663.1:g.237821259G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 235887882,
          "referenceAllele": "G",
          "start": 235887881
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235887882G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620558,
          "referenceAllele": "G",
          "start": 620557
        }
      ],
      "hgvs": [
        "NG_008799.2:g.620558G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620776,
          "referenceAllele": "G",
          "start": 620775
        }
      ],
      "hgvs": [
        "NG_008799.3:g.620776G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8483,
          "referenceAllele": "G",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Glu2715Asp",
        "hgvsWellDefined": "ENSP00000499659.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8483,
          "referenceAllele": "G",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Glu2715Asp",
        "hgvsWellDefined": "ENSP00000499653.3:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8483,
          "referenceAllele": "G",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Glu2715Asp",
        "hgvsWellDefined": "ENSP00000499787.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.334G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8483,
          "referenceAllele": "G",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Glu2715Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8145G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8145G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Glu2715Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Glu2715Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.334G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8097,
          "referenceAllele": "G",
          "start": 8096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.8097G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Glu2699Asp",
        "hgvsWellDefined": "ENSP00000353174.7:p.Glu2699Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8462,
          "referenceAllele": "G",
          "start": 8461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Glu2715Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302351",
      "coordinates": [
        {
          "allele": "T",
          "end": 8265,
          "referenceAllele": "G",
          "start": 8264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Glu2715Asp",
        "hgvsWellDefined": "NP_001026.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8416,
          "referenceAllele": "G",
          "start": 8415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8413,
          "referenceAllele": "G",
          "start": 8412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.8172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Glu2724Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Glu2724Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8415,
          "referenceAllele": "G",
          "start": 8414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8381,
          "referenceAllele": "G",
          "start": 8380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Glu2715Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8416,
          "referenceAllele": "G",
          "start": 8415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8416,
          "referenceAllele": "G",
          "start": 8415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8414,
          "referenceAllele": "G",
          "start": 8413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8526,
          "referenceAllele": "G",
          "start": 8525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.*34G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:n.*34G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8382,
          "referenceAllele": "G",
          "start": 8381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.8142G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Glu2714Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Glu2714Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8456,
          "referenceAllele": "G",
          "start": 8455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.8456G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8486,
          "referenceAllele": "G",
          "start": 8485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.8172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Glu2724Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Glu2724Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8459,
          "referenceAllele": "G",
          "start": 8458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Glu2715Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.8175G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Glu2725Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Glu2725Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8456,
          "referenceAllele": "G",
          "start": 8455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.8142G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Glu2714Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Glu2714Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8468,
          "referenceAllele": "G",
          "start": 8467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.8154G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Glu2718Asp",
        "hgvsWellDefined": "XP_016857517.1:p.Glu2718Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8556,
          "referenceAllele": "G",
          "start": 8555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.8556G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.8489G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302351",
      "coordinates": [
        {
          "allele": "T",
          "end": 8483,
          "referenceAllele": "G",
          "start": 8482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.8145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Glu2715Asp",
        "hgvsWellDefined": "NP_001026.2:p.Glu2715Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.8145G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.8145G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Glu2715Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Glu2715Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}