{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345375521",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.502C>G (p.Gln168Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414779[alleleid]",
        "alleleId": 414779,
        "preferredName": "NM_001035.3(RYR2):c.502C>G (p.Gln168Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427184",
        "RCV": [
          "RCV000489848"
        ],
        "variationId": 427184
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237540661C>G?assembly=hg19",
        "id": "chr1:g.237540661C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237377361C>G?assembly=hg38",
        "id": "chr1:g.237377361C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085308008",
        "rs": 1085308008
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237377361,
          "referenceAllele": "C",
          "start": 237377360
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237377361C>G",
        "CM000663.2:g.237377361C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237540661,
          "referenceAllele": "C",
          "start": 237540660
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237540661C>G",
        "CM000663.1:g.237540661C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 235607284,
          "referenceAllele": "C",
          "start": 235607283
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235607284C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339960,
          "referenceAllele": "C",
          "start": 339959
        }
      ],
      "hgvs": [
        "NG_008799.2:g.339960C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340178,
          "referenceAllele": "C",
          "start": 340177
        }
      ],
      "hgvs": [
        "NG_008799.3:g.340178C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Gln168Glu",
        "hgvsWellDefined": "ENSP00000499659.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Gln168Glu",
        "hgvsWellDefined": "ENSP00000499653.3:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Gln168Glu",
        "hgvsWellDefined": "ENSP00000499787.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Gln168Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.502C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.502C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Gln168Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Gln168Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.454C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Gln152Glu",
        "hgvsWellDefined": "ENSP00000353174.7:p.Gln152Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Gln168Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388147",
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Gln168Glu",
        "hgvsWellDefined": "NP_001026.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711872.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.783C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Gln168Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.481C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Gln161Glu",
        "hgvsWellDefined": "XP_016857517.1:p.Gln161Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.816C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.816C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388147",
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.502C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Gln168Glu",
        "hgvsWellDefined": "NP_001026.2:p.Gln168Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.502C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.502C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Gln168Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Gln168Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}