{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345407069",
  "communityStandardTitle": [
    "NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627593[alleleid]",
        "alleleId": 627593,
        "preferredName": "NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/656670",
        "RCV": [
          "RCV002538149"
        ],
        "variationId": 656670
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237935344A>G?assembly=hg19",
        "id": "chr1:g.237935344A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.237772044A>G?assembly=hg38",
        "id": "chr1:g.237772044A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1573887621",
        "rs": 1573887621
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-237772044-A-G?dataset=gnomad_r4",
        "id": "1-237772044-A-G",
        "variant": "1:237772044 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237772044,
          "referenceAllele": "A",
          "start": 237772043
        }
      ],
      "hgvs": [
        "NC_000001.11:g.237772044A>G",
        "CM000663.2:g.237772044A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 237935344,
          "referenceAllele": "A",
          "start": 237935343
        }
      ],
      "hgvs": [
        "NC_000001.10:g.237935344A>G",
        "CM000663.1:g.237935344A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 236001967,
          "referenceAllele": "A",
          "start": 236001966
        }
      ],
      "hgvs": [
        "NC_000001.9:g.236001967A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734643,
          "referenceAllele": "A",
          "start": 734642
        }
      ],
      "hgvs": [
        "NG_008799.2:g.734643A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734861,
          "referenceAllele": "A",
          "start": 734860
        }
      ],
      "hgvs": [
        "NG_008799.3:g.734861A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706088"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11870,
          "referenceAllele": "A",
          "start": 11869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.2:c.*2682A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499659.2:n.*2682A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11916,
          "referenceAllele": "A",
          "start": 11915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.3:c.11578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499653.3:p.Asn3860Asp",
        "hgvsWellDefined": "ENSP00000499653.3:p.Asn3860Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11949,
          "referenceAllele": "A",
          "start": 11948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.2:c.11611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499787.2:p.Asn3871Asp",
        "hgvsWellDefined": "ENSP00000499787.2:p.Asn3871Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3767,
          "referenceAllele": "A",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.2:c.3767A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11928,
          "referenceAllele": "A",
          "start": 11927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.7:c.11590A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn3864Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn3864Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11590A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11590A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn3864Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn3864Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3767,
          "referenceAllele": "A",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000659194.1:c.3767A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "A",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000660292.1:c.1643A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11542,
          "referenceAllele": "A",
          "start": 11541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000360064.7:c.11542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353174.7:p.Asn3848Asp",
        "hgvsWellDefined": "ENSP00000353174.7:p.Asn3848Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11907,
          "referenceAllele": "A",
          "start": 11906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000366574.6:c.11590A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355533.2:p.Asn3864Asp",
        "hgvsWellDefined": "ENSP00000355533.2:p.Asn3864Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2785,
          "referenceAllele": "A",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "ENST00000609119.1:n.2785A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953250",
      "coordinates": [
        {
          "allele": "G",
          "end": 11710,
          "referenceAllele": "A",
          "start": 11709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.2:c.11590A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn3864Asp",
        "hgvsWellDefined": "NP_001026.2:p.Asn3864Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11885,
          "referenceAllele": "A",
          "start": 11884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.2:c.11644A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn3882Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Asn3882Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11882,
          "referenceAllele": "A",
          "start": 11881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.2:c.11641A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn3881Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Asn3881Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11860,
          "referenceAllele": "A",
          "start": 11859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.2:c.11620A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn3874Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Asn3874Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11850,
          "referenceAllele": "A",
          "start": 11849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.2:c.11614A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn3872Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Asn3872Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11849,
          "referenceAllele": "A",
          "start": 11848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.2:c.11608A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn3870Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Asn3870Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11825,
          "referenceAllele": "A",
          "start": 11824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.2:c.11584A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn3862Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Asn3862Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11646,
          "referenceAllele": "A",
          "start": 11645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.2:c.11407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn3803Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Asn3803Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11791,
          "referenceAllele": "A",
          "start": 11790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.2:c.11551A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn3851Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Asn3851Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11958,
          "referenceAllele": "A",
          "start": 11957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711802.3:c.11644A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711865.1:p.Asn3882Asp",
        "hgvsWellDefined": "XP_006711865.1:p.Asn3882Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11955,
          "referenceAllele": "A",
          "start": 11954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711803.3:c.11641A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711866.1:p.Asn3881Asp",
        "hgvsWellDefined": "XP_006711866.1:p.Asn3881Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11934,
          "referenceAllele": "A",
          "start": 11933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711804.3:c.11620A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711867.1:p.Asn3874Asp",
        "hgvsWellDefined": "XP_006711867.1:p.Asn3874Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11928,
          "referenceAllele": "A",
          "start": 11927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711805.3:c.11614A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711868.1:p.Asn3872Asp",
        "hgvsWellDefined": "XP_006711868.1:p.Asn3872Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11922,
          "referenceAllele": "A",
          "start": 11921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711806.3:c.11608A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711869.1:p.Asn3870Asp",
        "hgvsWellDefined": "XP_006711869.1:p.Asn3870Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11898,
          "referenceAllele": "A",
          "start": 11897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711807.3:c.11584A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711870.1:p.Asn3862Asp",
        "hgvsWellDefined": "XP_006711870.1:p.Asn3862Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11721,
          "referenceAllele": "A",
          "start": 11720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711808.3:c.11407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711871.1:p.Asn3803Asp",
        "hgvsWellDefined": "XP_006711871.1:p.Asn3803Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11865,
          "referenceAllele": "A",
          "start": 11864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_006711810.3:c.11551A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711873.1:p.Asn3851Asp",
        "hgvsWellDefined": "XP_006711873.1:p.Asn3851Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11937,
          "referenceAllele": "A",
          "start": 11936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "XM_017002028.1:c.11623A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857517.1:p.Asn3875Asp",
        "hgvsWellDefined": "XP_016857517.1:p.Asn3875Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953250",
      "coordinates": [
        {
          "allele": "G",
          "end": 11928,
          "referenceAllele": "A",
          "start": 11927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NM_001035.3:c.11590A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026.2:p.Asn3864Asp",
        "hgvsWellDefined": "NP_001026.2:p.Asn3864Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366574.7:c.11590A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001035.3:c.11590A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355533.2:p.Asn3864Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001026.2:p.Asn3864Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}