{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008450", "communityStandardTitle": [ "NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=906287", "active": true, "id": "COSM906287" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5792980", "active": true, "id": "COSM5792980" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196751[alleleid]", "alleleId": 196751, "preferredName": "NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201365", "RCV": [ "RCV000182854", "RCV000445354", "RCV002390465" ], "variationId": 201365 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237995919G>A?assembly=hg19", "id": "chr1:g.237995919G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237832619G>A?assembly=hg38", "id": "chr1:g.237832619G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794728811", "rs": 794728811 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237832619, "referenceAllele": "G", "start": 237832618 } ], "hgvs": [ "NC_000001.11:g.237832619G>A", "CM000663.2:g.237832619G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237995919, "referenceAllele": "G", "start": 237995918 } ], "hgvs": [ "NC_000001.10:g.237995919G>A", "CM000663.1:g.237995919G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 236062542, "referenceAllele": "G", "start": 236062541 } ], "hgvs": [ "NC_000001.9:g.236062542G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 795218, "referenceAllele": "G", "start": 795217 } ], "hgvs": [ "NG_008799.2:g.795218G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001219" }, { "coordinates": [ { "allele": "A", "end": 795436, "referenceAllele": "G", "start": 795435 } ], "hgvs": [ "NG_008799.3:g.795436G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 15156, "referenceAllele": "G", "start": 15155 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000609119.2:c.*5968G>A" ], "proteinEffect": { "hgvs": "ENSP00000499659.2:n.*5968G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914356" }, { "coordinates": [ { "allele": "A", "end": 15196, "referenceAllele": "G", "start": 15195 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.3:c.14858G>A" ], "proteinEffect": { "hgvs": "ENSP00000499653.3:p.Arg4953Gln", "hgvsWellDefined": "ENSP00000499653.3:p.Arg4953Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914438" }, { "coordinates": [ { "allele": "A", "end": 15235, "referenceAllele": "G", "start": 15234 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000660292.2:c.14897G>A" ], "proteinEffect": { "hgvs": "ENSP00000499787.2:p.Arg4966Gln", "hgvsWellDefined": "ENSP00000499787.2:p.Arg4966Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914439" }, { "coordinates": [ { "allele": "A", "end": 7047, "referenceAllele": "G", "start": 7046 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.2:c.7047G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS906514" }, { "coordinates": [ { "allele": "A", "end": 15214, "referenceAllele": "G", "start": 15213 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.7:c.14876G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Arg4959Gln", "hgvsWellDefined": "ENSP00000355533.2:p.Arg4959Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS749811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.14876G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.14876G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Arg4959Gln" }, "RefSeq": { "hgvs": "NP_001026.2:p.Arg4959Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 14825, "referenceAllele": "G", "start": 14824 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000360064.7:c.14825G>A" ], "proteinEffect": { "hgvs": "ENSP00000353174.7:p.Arg4942Gln", "hgvsWellDefined": "ENSP00000353174.7:p.Arg4942Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247386" }, { "coordinates": [ { "allele": "A", "end": 15193, "referenceAllele": "G", "start": 15192 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.6:c.14876G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Arg4959Gln", "hgvsWellDefined": "ENSP00000355533.2:p.Arg4959Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247208" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000462585.1:n.719G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306800" }, { "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "G", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000608590.5:n.1286G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS400065" }, { "@id": "http://reg.genome.network/allele/PA092547", "coordinates": [ { "allele": "A", "end": 14996, "referenceAllele": "G", "start": 14995 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.2:c.14876G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Arg4959Gln", "hgvsWellDefined": "NP_001026.2:p.Arg4959Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS009205" }, { "coordinates": [ { "allele": "A", "end": 15171, "referenceAllele": "G", "start": 15170 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.2:c.14930G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Arg4977Gln", "hgvsWellDefined": "XP_006711865.1:p.Arg4977Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069300" }, { "coordinates": [ { "allele": "A", "end": 15168, "referenceAllele": "G", "start": 15167 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.2:c.14927G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Arg4976Gln", "hgvsWellDefined": "XP_006711866.1:p.Arg4976Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069301" }, { "coordinates": [ { "allele": "A", "end": 15146, "referenceAllele": "G", "start": 15145 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.2:c.14906G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Arg4969Gln", "hgvsWellDefined": "XP_006711867.1:p.Arg4969Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069302" }, { "coordinates": [ { "allele": "A", "end": 15136, "referenceAllele": "G", "start": 15135 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.2:c.14900G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Arg4967Gln", "hgvsWellDefined": "XP_006711868.1:p.Arg4967Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069303" }, { "coordinates": [ { "allele": "A", "end": 15135, "referenceAllele": "G", "start": 15134 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.2:c.14894G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Arg4965Gln", "hgvsWellDefined": "XP_006711869.1:p.Arg4965Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069304" }, { "coordinates": [ { "allele": "A", "end": 15111, "referenceAllele": "G", "start": 15110 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.2:c.14870G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Arg4957Gln", "hgvsWellDefined": "XP_006711870.1:p.Arg4957Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069305" }, { "coordinates": [ { "allele": "A", "end": 14932, "referenceAllele": "G", "start": 14931 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.2:c.14693G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Arg4898Gln", "hgvsWellDefined": "XP_006711871.1:p.Arg4898Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069306" }, { "coordinates": [ { "allele": "A", "end": 15077, "referenceAllele": "G", "start": 15076 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.2:c.14837G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Arg4946Gln", "hgvsWellDefined": "XP_006711873.1:p.Arg4946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS069308" }, { "coordinates": [ { "allele": "A", "end": 15244, "referenceAllele": "G", "start": 15243 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.3:c.14930G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Arg4977Gln", "hgvsWellDefined": "XP_006711865.1:p.Arg4977Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538080" }, { "coordinates": [ { "allele": "A", "end": 15241, "referenceAllele": "G", "start": 15240 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.3:c.14927G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Arg4976Gln", "hgvsWellDefined": "XP_006711866.1:p.Arg4976Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538081" }, { "coordinates": [ { "allele": "A", "end": 15220, "referenceAllele": "G", "start": 15219 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.3:c.14906G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Arg4969Gln", "hgvsWellDefined": "XP_006711867.1:p.Arg4969Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538082" }, { "coordinates": [ { "allele": "A", "end": 15214, "referenceAllele": "G", "start": 15213 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.3:c.14900G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Arg4967Gln", "hgvsWellDefined": "XP_006711868.1:p.Arg4967Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538083" }, { "coordinates": [ { "allele": "A", "end": 15208, "referenceAllele": "G", "start": 15207 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.3:c.14894G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Arg4965Gln", "hgvsWellDefined": "XP_006711869.1:p.Arg4965Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538084" }, { "coordinates": [ { "allele": "A", "end": 15184, "referenceAllele": "G", "start": 15183 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.3:c.14870G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Arg4957Gln", "hgvsWellDefined": "XP_006711870.1:p.Arg4957Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538085" }, { "coordinates": [ { "allele": "A", "end": 15007, "referenceAllele": "G", "start": 15006 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.3:c.14693G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Arg4898Gln", "hgvsWellDefined": "XP_006711871.1:p.Arg4898Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538086" }, { "coordinates": [ { "allele": "A", "end": 15151, "referenceAllele": "G", "start": 15150 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.3:c.14837G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Arg4946Gln", "hgvsWellDefined": "XP_006711873.1:p.Arg4946Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS538087" }, { "coordinates": [ { "allele": "A", "end": 15223, "referenceAllele": "G", "start": 15222 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_017002028.1:c.14909G>A" ], "proteinEffect": { "hgvs": "XP_016857517.1:p.Arg4970Gln", "hgvsWellDefined": "XP_016857517.1:p.Arg4970Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS558067" }, { "@id": "http://reg.genome.network/allele/PA092547", "coordinates": [ { "allele": "A", "end": 15214, "referenceAllele": "G", "start": 15213 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.3:c.14876G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Arg4959Gln", "hgvsWellDefined": "NP_001026.2:p.Arg4959Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS663078", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.14876G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.14876G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Arg4959Gln" }, "RefSeq": { "hgvs": "NP_001026.2:p.Arg4959Gln" } } } } ], "type": "nucleotide" }