{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617108",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405114[alleleid]",
        "alleleId": 405114,
        "preferredName": "NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419966",
        "RCV": [
          "RCV000484014",
          "RCV003525913"
        ],
        "variationId": 419966
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237947001A>G?assembly=hg19",
        "id": "chr1:g.237947001A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237783701A>G?assembly=hg38",
        "id": "chr1:g.237783701A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794210",
        "rs": 1064794210
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237783701,
          "referenceAllele": "A",
          "start": 237783700
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237783701A>G",
        "CM000663.2:g.237783701A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237947001,
          "referenceAllele": "A",
          "start": 237947000
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237947001A>G",
        "CM000663.1:g.237947001A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236013624,
          "referenceAllele": "A",
          "start": 236013623
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236013624A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746300,
          "referenceAllele": "A",
          "start": 746299
        }
      ],
      "hgvs": [
        "NG_008799.2:g.746300A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746518,
          "referenceAllele": "A",
          "start": 746517
        }
      ],
      "hgvs": [
        "NG_008799.3:g.746518A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12269,
          "referenceAllele": "A",
          "start": 12268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*3081A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*3081A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12315,
          "referenceAllele": "A",
          "start": 12314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.11977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Lys3993Glu",
        "hgvsWellDefined": "ENSP00000499653.3:p.Lys3993Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12348,
          "referenceAllele": "A",
          "start": 12347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.12010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Lys4004Glu",
        "hgvsWellDefined": "ENSP00000499787.2:p.Lys4004Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4166,
          "referenceAllele": "A",
          "start": 4165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.4166A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12327,
          "referenceAllele": "A",
          "start": 12326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.11989A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Lys3997Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Lys3997Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11989A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11989A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Lys3997Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Lys3997Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4166,
          "referenceAllele": "A",
          "start": 4165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.4166A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "A",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.2042A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11941,
          "referenceAllele": "A",
          "start": 11940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Lys3981Glu",
        "hgvsWellDefined": "ENSP00000353174.7:p.Lys3981Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12306,
          "referenceAllele": "A",
          "start": 12305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.11989A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Lys3997Glu",
        "hgvsWellDefined": "ENSP00000355533.2:p.Lys3997Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3184,
          "referenceAllele": "A",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.3184A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390886",
      "coordinates": [
        {
          "allele": "G",
          "end": 12109,
          "referenceAllele": "A",
          "start": 12108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.11989A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Lys3997Glu",
        "hgvsWellDefined": "NP_001026.2:p.Lys3997Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12284,
          "referenceAllele": "A",
          "start": 12283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.12043A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Lys4015Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Lys4015Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12281,
          "referenceAllele": "A",
          "start": 12280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.12040A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Lys4014Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Lys4014Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12259,
          "referenceAllele": "A",
          "start": 12258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.12019A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Lys4007Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Lys4007Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12249,
          "referenceAllele": "A",
          "start": 12248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.12013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Lys4005Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Lys4005Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12248,
          "referenceAllele": "A",
          "start": 12247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.12007A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Lys4003Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Lys4003Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12224,
          "referenceAllele": "A",
          "start": 12223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.11983A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Lys3995Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Lys3995Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12045,
          "referenceAllele": "A",
          "start": 12044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11806A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Lys3936Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Lys3936Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12190,
          "referenceAllele": "A",
          "start": 12189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.11950A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Lys3984Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Lys3984Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12357,
          "referenceAllele": "A",
          "start": 12356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.12043A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Lys4015Glu",
        "hgvsWellDefined": "XP_006711865.1:p.Lys4015Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12354,
          "referenceAllele": "A",
          "start": 12353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.12040A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Lys4014Glu",
        "hgvsWellDefined": "XP_006711866.1:p.Lys4014Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12333,
          "referenceAllele": "A",
          "start": 12332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.12019A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Lys4007Glu",
        "hgvsWellDefined": "XP_006711867.1:p.Lys4007Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12327,
          "referenceAllele": "A",
          "start": 12326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.12013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Lys4005Glu",
        "hgvsWellDefined": "XP_006711868.1:p.Lys4005Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12321,
          "referenceAllele": "A",
          "start": 12320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.12007A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Lys4003Glu",
        "hgvsWellDefined": "XP_006711869.1:p.Lys4003Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12297,
          "referenceAllele": "A",
          "start": 12296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.11983A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Lys3995Glu",
        "hgvsWellDefined": "XP_006711870.1:p.Lys3995Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12120,
          "referenceAllele": "A",
          "start": 12119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11806A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Lys3936Glu",
        "hgvsWellDefined": "XP_006711871.1:p.Lys3936Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12264,
          "referenceAllele": "A",
          "start": 12263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.11950A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Lys3984Glu",
        "hgvsWellDefined": "XP_006711873.1:p.Lys3984Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12336,
          "referenceAllele": "A",
          "start": 12335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.12022A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Lys4008Glu",
        "hgvsWellDefined": "XP_016857517.1:p.Lys4008Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390886",
      "coordinates": [
        {
          "allele": "G",
          "end": 12327,
          "referenceAllele": "A",
          "start": 12326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.11989A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Lys3997Glu",
        "hgvsWellDefined": "NP_001026.2:p.Lys3997Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11989A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11989A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Lys3997Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Lys3997Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}