{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10609811",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280333[alleleid]",
        "alleleId": 280333,
        "preferredName": "NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/296762",
        "RCV": [
          "RCV000303116",
          "RCV000407737",
          "RCV001188873",
          "RCV003323501",
          "RCV003765735"
        ],
        "variationId": 296762
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237948009A>G?assembly=hg19",
        "id": "chr1:g.237948009A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237784709A>G?assembly=hg38",
        "id": "chr1:g.237784709A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371680410",
        "rs": 371680410
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237784709-A-G?dataset=gnomad_r4",
        "id": "1-237784709-A-G",
        "variant": "1:237784709 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237784709,
          "referenceAllele": "A",
          "start": 237784708
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237784709A>G",
        "CM000663.2:g.237784709A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237948009,
          "referenceAllele": "A",
          "start": 237948008
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237948009A>G",
        "CM000663.1:g.237948009A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236014632,
          "referenceAllele": "A",
          "start": 236014631
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236014632A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747308,
          "referenceAllele": "A",
          "start": 747307
        }
      ],
      "hgvs": [
        "NG_008799.2:g.747308A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747526,
          "referenceAllele": "A",
          "start": 747525
        }
      ],
      "hgvs": [
        "NG_008799.3:g.747526A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13277,
          "referenceAllele": "A",
          "start": 13276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*4089A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*4089A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13323,
          "referenceAllele": "A",
          "start": 13322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.12985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Asn4329Asp",
        "hgvsWellDefined": "ENSP00000499653.3:p.Asn4329Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13356,
          "referenceAllele": "A",
          "start": 13355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.13018A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Asn4340Asp",
        "hgvsWellDefined": "ENSP00000499787.2:p.Asn4340Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5174,
          "referenceAllele": "A",
          "start": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.5174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13335,
          "referenceAllele": "A",
          "start": 13334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.12997A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4333Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4333Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12997A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12997A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4333Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4333Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5174,
          "referenceAllele": "A",
          "start": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.5174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3050,
          "referenceAllele": "A",
          "start": 3049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.3050A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12949,
          "referenceAllele": "A",
          "start": 12948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.12949A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Asn4317Asp",
        "hgvsWellDefined": "ENSP00000353174.7:p.Asn4317Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13314,
          "referenceAllele": "A",
          "start": 13313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.12997A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn4333Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn4333Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4192,
          "referenceAllele": "A",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.4192A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391125",
      "coordinates": [
        {
          "allele": "G",
          "end": 13117,
          "referenceAllele": "A",
          "start": 13116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.12997A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4333Asp",
        "hgvsWellDefined": "NP_001026.2:p.Asn4333Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13292,
          "referenceAllele": "A",
          "start": 13291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.13051A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4351Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4351Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13289,
          "referenceAllele": "A",
          "start": 13288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.13048A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4350Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4350Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13267,
          "referenceAllele": "A",
          "start": 13266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.13027A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4343Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13257,
          "referenceAllele": "A",
          "start": 13256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.13021A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4341Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13256,
          "referenceAllele": "A",
          "start": 13255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.13015A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4339Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13232,
          "referenceAllele": "A",
          "start": 13231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.12991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4331Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4331Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13053,
          "referenceAllele": "A",
          "start": 13052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.12814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4272Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4272Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13198,
          "referenceAllele": "A",
          "start": 13197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.12958A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4320Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13365,
          "referenceAllele": "A",
          "start": 13364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.13051A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn4351Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Asn4351Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13362,
          "referenceAllele": "A",
          "start": 13361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.13048A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn4350Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Asn4350Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13341,
          "referenceAllele": "A",
          "start": 13340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.13027A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn4343Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Asn4343Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13335,
          "referenceAllele": "A",
          "start": 13334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.13021A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn4341Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Asn4341Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13329,
          "referenceAllele": "A",
          "start": 13328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.13015A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn4339Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Asn4339Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13305,
          "referenceAllele": "A",
          "start": 13304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.12991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn4331Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Asn4331Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13128,
          "referenceAllele": "A",
          "start": 13127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.12814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn4272Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Asn4272Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13272,
          "referenceAllele": "A",
          "start": 13271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.12958A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn4320Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Asn4320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13344,
          "referenceAllele": "A",
          "start": 13343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.13030A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Asn4344Asp",
        "hgvsWellDefined": "XP_016857517.1:p.Asn4344Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391125",
      "coordinates": [
        {
          "allele": "G",
          "end": 13335,
          "referenceAllele": "A",
          "start": 13334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.12997A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn4333Asp",
        "hgvsWellDefined": "NP_001026.2:p.Asn4333Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.12997A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.12997A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn4333Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn4333Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}