{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA087228", "communityStandardTitle": [ "NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5881681", "active": true, "id": "COSM5881681" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5881682", "active": true, "id": "COSM5881682" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627571[alleleid]", "alleleId": 627571, "preferredName": "NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642589", "RCV": [ "RCV001184874", "RCV002534594", "RCV001816852", "RCV004027553", "RCV004001598" ], "variationId": 642589 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-237801664-G-A", "id": "1-237801664-G-A", "variant": "1:237801664 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237801664G>A?assembly=hg19", "id": "chr1:g.237801664G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237638364G>A?assembly=hg38", "id": "chr1:g.237638364G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/759012078", "rs": 759012078 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237801664-G-A?dataset=gnomad_r2_1", "id": "1-237801664-G-A", "variant": "1:237801664 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237638364-G-A?dataset=gnomad_r3", "id": "1-237638364-G-A", "variant": "1:237638364 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237638364-G-A?dataset=gnomad_r4", "id": "1-237638364-G-A", "variant": "1:237638364 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237638364, "referenceAllele": "G", "start": 237638363 } ], "hgvs": [ "NC_000001.11:g.237638364G>A", "CM000663.2:g.237638364G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237801664, "referenceAllele": "G", "start": 237801663 } ], "hgvs": [ "NC_000001.10:g.237801664G>A", "CM000663.1:g.237801664G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235868287, "referenceAllele": "G", "start": 235868286 } ], "hgvs": [ "NC_000001.9:g.235868287G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 600963, "referenceAllele": "G", "start": 600962 } ], "hgvs": [ "NG_008799.2:g.600963G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001219" }, { "coordinates": [ { "allele": "A", "end": 601181, "referenceAllele": "G", "start": 601180 } ], "hgvs": [ "NG_008799.3:g.601181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000609119.2:c.6800G>A" ], "proteinEffect": { "hgvs": "ENSP00000499659.2:p.Arg2267His", "hgvsWellDefined": "ENSP00000499659.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914356" }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.3:c.6800G>A" ], "proteinEffect": { "hgvs": "ENSP00000499653.3:p.Arg2267His", "hgvsWellDefined": "ENSP00000499653.3:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914438" }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000660292.2:c.6800G>A" ], "proteinEffect": { "hgvs": "ENSP00000499787.2:p.Arg2267His", "hgvsWellDefined": "ENSP00000499787.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914439" }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.7:c.6800G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Arg2267His", "hgvsWellDefined": "ENSP00000355533.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS749811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.6800G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.6800G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Arg2267His" }, "RefSeq": { "hgvs": "NP_001026.2:p.Arg2267His" } } } }, { "coordinates": [ { "allele": "A", "end": 6752, "referenceAllele": "G", "start": 6751 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000360064.7:c.6752G>A" ], "proteinEffect": { "hgvs": "ENSP00000353174.7:p.Arg2251His", "hgvsWellDefined": "ENSP00000353174.7:p.Arg2251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247386" }, { "coordinates": [ { "allele": "A", "end": 7117, "referenceAllele": "G", "start": 7116 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.6:c.6800G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Arg2267His", "hgvsWellDefined": "ENSP00000355533.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247208" }, { "@id": "http://reg.genome.network/allele/PA915966082", "coordinates": [ { "allele": "A", "end": 6920, "referenceAllele": "G", "start": 6919 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.2:c.6800G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Arg2267His", "hgvsWellDefined": "NP_001026.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009205" }, { "coordinates": [ { "allele": "A", "end": 7071, "referenceAllele": "G", "start": 7070 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Arg2277His", "hgvsWellDefined": "XP_006711865.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069300" }, { "coordinates": [ { "allele": "A", "end": 7068, "referenceAllele": "G", "start": 7067 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.2:c.6827G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Arg2276His", "hgvsWellDefined": "XP_006711866.1:p.Arg2276His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069301" }, { "coordinates": [ { "allele": "A", "end": 7070, "referenceAllele": "G", "start": 7069 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Arg2277His", "hgvsWellDefined": "XP_006711867.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069302" }, { "coordinates": [ { "allele": "A", "end": 7036, "referenceAllele": "G", "start": 7035 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.2:c.6800G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Arg2267His", "hgvsWellDefined": "XP_006711868.1:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069303" }, { "coordinates": [ { "allele": "A", "end": 7071, "referenceAllele": "G", "start": 7070 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Arg2277His", "hgvsWellDefined": "XP_006711869.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069304" }, { "coordinates": [ { "allele": "A", "end": 7071, "referenceAllele": "G", "start": 7070 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Arg2277His", "hgvsWellDefined": "XP_006711870.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069305" }, { "coordinates": [ { "allele": "A", "end": 7069, "referenceAllele": "G", "start": 7068 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Arg2277His", "hgvsWellDefined": "XP_006711871.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069306" }, { "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "G", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711809.2:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711872.1:p.Arg2277His", "hgvsWellDefined": "XP_006711872.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069307" }, { "coordinates": [ { "allele": "A", "end": 7037, "referenceAllele": "G", "start": 7036 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.2:c.6797G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Arg2266His", "hgvsWellDefined": "XP_006711873.1:p.Arg2266His" }, "referenceSequence": "http://reg.genome.network/refseq/RS069308" }, { "coordinates": [ { "allele": "A", "end": 7111, "referenceAllele": "G", "start": 7110 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.1:n.7111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142730" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.3:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Arg2277His", "hgvsWellDefined": "XP_006711865.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538080" }, { "coordinates": [ { "allele": "A", "end": 7141, "referenceAllele": "G", "start": 7140 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.3:c.6827G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Arg2276His", "hgvsWellDefined": "XP_006711866.1:p.Arg2276His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538081" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.3:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Arg2277His", "hgvsWellDefined": "XP_006711867.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538082" }, { "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "G", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.3:c.6800G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Arg2267His", "hgvsWellDefined": "XP_006711868.1:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538083" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.3:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Arg2277His", "hgvsWellDefined": "XP_006711869.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538084" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.3:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Arg2277His", "hgvsWellDefined": "XP_006711870.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538085" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.3:c.6830G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Arg2277His", "hgvsWellDefined": "XP_006711871.1:p.Arg2277His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538086" }, { "coordinates": [ { "allele": "A", "end": 7111, "referenceAllele": "G", "start": 7110 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.3:c.6797G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Arg2266His", "hgvsWellDefined": "XP_006711873.1:p.Arg2266His" }, "referenceSequence": "http://reg.genome.network/refseq/RS538087" }, { "coordinates": [ { "allele": "A", "end": 7123, "referenceAllele": "G", "start": 7122 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_017002028.1:c.6809G>A" ], "proteinEffect": { "hgvs": "XP_016857517.1:p.Arg2270His", "hgvsWellDefined": "XP_016857517.1:p.Arg2270His" }, "referenceSequence": "http://reg.genome.network/refseq/RS558067" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_002957299.1:n.7144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603435" }, { "coordinates": [ { "allele": "A", "end": 7144, "referenceAllele": "G", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.2:n.7144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615229" }, { "@id": "http://reg.genome.network/allele/PA915966082", "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.3:c.6800G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Arg2267His", "hgvsWellDefined": "NP_001026.2:p.Arg2267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS663078", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.6800G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.6800G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Arg2267His" }, "RefSeq": { "hgvs": "NP_001026.2:p.Arg2267His" } } } } ], "type": "nucleotide" }