{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345378113",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5719507",
        "active": true,
        "id": "COSM5719507"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5719508",
        "active": true,
        "id": "COSM5719508"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921904[alleleid]",
        "alleleId": 921904,
        "preferredName": "NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/947702",
        "RCV": [
          "RCV002562463"
        ],
        "variationId": 947702
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237551387G>A?assembly=hg19",
        "id": "chr1:g.237551387G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237388087G>A?assembly=hg38",
        "id": "chr1:g.237388087G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1702087452",
        "rs": 1702087452
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237388087,
          "referenceAllele": "G",
          "start": 237388086
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237388087G>A",
        "CM000663.2:g.237388087G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 237551387,
          "referenceAllele": "G",
          "start": 237551386
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237551387G>A",
        "CM000663.1:g.237551387G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 235618010,
          "referenceAllele": "G",
          "start": 235618009
        }
      ],
      "hgvs": [
        "NC_000001.9:g.235618010G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350686,
          "referenceAllele": "G",
          "start": 350685
        }
      ],
      "hgvs": [
        "NG_008799.2:g.350686G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350904,
          "referenceAllele": "G",
          "start": 350903
        }
      ],
      "hgvs": [
        "NG_008799.3:g.350904G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:p.Gly226Glu",
        "hgvsWellDefined": "ENSP00000499659.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Gly226Glu",
        "hgvsWellDefined": "ENSP00000499653.3:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Gly226Glu",
        "hgvsWellDefined": "ENSP00000499787.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Gly226Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.677G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.677G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Gly226Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Gly226Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.629G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Gly210Glu",
        "hgvsWellDefined": "ENSP00000353174.7:p.Gly210Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Gly226Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668293",
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Gly226Glu",
        "hgvsWellDefined": "NP_001026.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711809.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711872.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711872.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.1:n.958G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Gly226Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.656G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Gly219Glu",
        "hgvsWellDefined": "XP_016857517.1:p.Gly219Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_002957299.1:n.991G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XR_949152.2:n.991G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668293",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Gly226Glu",
        "hgvsWellDefined": "NP_001026.2:p.Gly226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.677G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.677G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Gly226Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Gly226Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}