{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10610667",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.*711C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=281690[alleleid]",
        "alleleId": 281690,
        "preferredName": "NM_001035.3(RYR2):c.*711C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/296794",
        "RCV": [
          "RCV000284444",
          "RCV000376366",
          "RCV002510838"
        ],
        "variationId": 296794
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237996658C>G?assembly=hg19",
        "id": "chr1:g.237996658C>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237996658_237996664delinsGCCCCCG?assembly=hg19",
        "id": "chr1:g.237996658_237996664delinsGCCCCCG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237833358C>G?assembly=hg38",
        "id": "chr1:g.237833358C>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237833358_237833364delinsGCCCCCG?assembly=hg38",
        "id": "chr1:g.237833358_237833364delinsGCCCCCG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/544493822",
        "rs": 544493822
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237996658-C-G?dataset=gnomad_r2_1",
        "id": "1-237996658-C-G",
        "variant": "1:237996658 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237833358-C-G?dataset=gnomad_r3",
        "id": "1-237833358-C-G",
        "variant": "1:237833358 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237833358-C-G?dataset=gnomad_r4",
        "id": "1-237833358-C-G",
        "variant": "1:237833358 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237833358,
          "referenceAllele": "C",
          "start": 237833357
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237833358C>G",
        "CM000663.2:g.237833358C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237996658,
          "referenceAllele": "C",
          "start": 237996657
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237996658C>G",
        "CM000663.1:g.237996658C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236063281,
          "referenceAllele": "C",
          "start": 236063280
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236063281C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795957,
          "referenceAllele": "C",
          "start": 795956
        }
      ],
      "hgvs": [
        "NG_008799.2:g.795957C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 796175,
          "referenceAllele": "C",
          "start": 796174
        }
      ],
      "hgvs": [
        "NG_008799.3:g.796175C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15895,
          "referenceAllele": "C",
          "start": 15894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*6707C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*6707C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15935,
          "referenceAllele": "C",
          "start": 15934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15974,
          "referenceAllele": "C",
          "start": 15973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15953,
          "referenceAllele": "C",
          "start": 15952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.*711C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.*711C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.*711C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.*711C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15932,
          "referenceAllele": "C",
          "start": 15931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15735,
          "referenceAllele": "C",
          "start": 15734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15910,
          "referenceAllele": "C",
          "start": 15909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15907,
          "referenceAllele": "C",
          "start": 15906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15885,
          "referenceAllele": "C",
          "start": 15884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15875,
          "referenceAllele": "C",
          "start": 15874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15874,
          "referenceAllele": "C",
          "start": 15873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15850,
          "referenceAllele": "C",
          "start": 15849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15671,
          "referenceAllele": "C",
          "start": 15670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15816,
          "referenceAllele": "C",
          "start": 15815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15983,
          "referenceAllele": "C",
          "start": 15982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15980,
          "referenceAllele": "C",
          "start": 15979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15959,
          "referenceAllele": "C",
          "start": 15958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15953,
          "referenceAllele": "C",
          "start": 15952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15947,
          "referenceAllele": "C",
          "start": 15946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15923,
          "referenceAllele": "C",
          "start": 15922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15746,
          "referenceAllele": "C",
          "start": 15745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15890,
          "referenceAllele": "C",
          "start": 15889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15962,
          "referenceAllele": "C",
          "start": 15961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15953,
          "referenceAllele": "C",
          "start": 15952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.*711C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:n.*711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.*711C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.*711C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:n.*711C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:n.*711C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}