{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009693", "communityStandardTitle": [ "NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6052687", "active": true, "id": "COSM6052687" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6052688", "active": true, "id": "COSM6052688" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196597[alleleid]", "alleleId": 196597, "preferredName": "NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201250", "RCV": [ "RCV000182727", "RCV000778053", "RCV003105815" ], "variationId": 201250 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237774158G>A?assembly=hg19", "id": "chr1:g.237774158G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237610858G>A?assembly=hg38", "id": "chr1:g.237610858G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794728737", "rs": 794728737 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237774158-G-A?dataset=gnomad_r2_1", "id": "1-237774158-G-A", "variant": "1:237774158 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237610858-G-A?dataset=gnomad_r3", "id": "1-237610858-G-A", "variant": "1:237610858 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237610858-G-A?dataset=gnomad_r4", "id": "1-237610858-G-A", "variant": "1:237610858 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237610858, "referenceAllele": "G", "start": 237610857 } ], "hgvs": [ "NC_000001.11:g.237610858G>A", "CM000663.2:g.237610858G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237774158, "referenceAllele": "G", "start": 237774157 } ], "hgvs": [ "NC_000001.10:g.237774158G>A", "CM000663.1:g.237774158G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235840781, "referenceAllele": "G", "start": 235840780 } ], "hgvs": [ "NC_000001.9:g.235840781G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 573457, "referenceAllele": "G", "start": 573456 } ], "hgvs": [ "NG_008799.2:g.573457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001219" }, { "coordinates": [ { "allele": "A", "end": 573675, "referenceAllele": "G", "start": 573674 } ], "hgvs": [ "NG_008799.3:g.573675G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000609119.2:c.4780G>A" ], "proteinEffect": { "hgvs": "ENSP00000499659.2:p.Val1594Ile", "hgvsWellDefined": "ENSP00000499659.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914356" }, { "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.3:c.4780G>A" ], "proteinEffect": { "hgvs": "ENSP00000499653.3:p.Val1594Ile", "hgvsWellDefined": "ENSP00000499653.3:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914438" }, { "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000660292.2:c.4780G>A" ], "proteinEffect": { "hgvs": "ENSP00000499787.2:p.Val1594Ile", "hgvsWellDefined": "ENSP00000499787.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914439" }, { "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.7:c.4780G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Val1594Ile", "hgvsWellDefined": "ENSP00000355533.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS749811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.4780G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.4780G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Val1594Ile" }, "RefSeq": { "hgvs": "NP_001026.2:p.Val1594Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 4732, "referenceAllele": "G", "start": 4731 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000360064.7:c.4732G>A" ], "proteinEffect": { "hgvs": "ENSP00000353174.7:p.Val1578Ile", "hgvsWellDefined": "ENSP00000353174.7:p.Val1578Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247386" }, { "coordinates": [ { "allele": "A", "end": 5097, "referenceAllele": "G", "start": 5096 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.6:c.4780G>A" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Val1594Ile", "hgvsWellDefined": "ENSP00000355533.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS247208" }, { "@id": "http://reg.genome.network/allele/PA306854", "coordinates": [ { "allele": "A", "end": 4900, "referenceAllele": "G", "start": 4899 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.2:c.4780G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Val1594Ile", "hgvsWellDefined": "NP_001026.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS009205" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711865.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069300" }, { "coordinates": [ { "allele": "A", "end": 5048, "referenceAllele": "G", "start": 5047 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.2:c.4807G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Val1603Ile", "hgvsWellDefined": "XP_006711866.1:p.Val1603Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069301" }, { "coordinates": [ { "allele": "A", "end": 5050, "referenceAllele": "G", "start": 5049 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711867.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069302" }, { "coordinates": [ { "allele": "A", "end": 5016, "referenceAllele": "G", "start": 5015 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.2:c.4780G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Val1594Ile", "hgvsWellDefined": "XP_006711868.1:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069303" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711869.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069304" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711870.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069305" }, { "coordinates": [ { "allele": "A", "end": 5049, "referenceAllele": "G", "start": 5048 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711871.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069306" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "G", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711809.2:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711872.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711872.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069307" }, { "coordinates": [ { "allele": "A", "end": 5017, "referenceAllele": "G", "start": 5016 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.2:c.4777G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Val1593Ile", "hgvsWellDefined": "XP_006711873.1:p.Val1593Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS069308" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "G", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.1:n.5091G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142730" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.3:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711865.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538080" }, { "coordinates": [ { "allele": "A", "end": 5121, "referenceAllele": "G", "start": 5120 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.3:c.4807G>A" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Val1603Ile", "hgvsWellDefined": "XP_006711866.1:p.Val1603Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538081" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.3:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711867.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538082" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "G", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.3:c.4780G>A" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Val1594Ile", "hgvsWellDefined": "XP_006711868.1:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538083" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.3:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711869.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538084" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.3:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711870.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538085" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.3:c.4810G>A" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Val1604Ile", "hgvsWellDefined": "XP_006711871.1:p.Val1604Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538086" }, { "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "G", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.3:c.4777G>A" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Val1593Ile", "hgvsWellDefined": "XP_006711873.1:p.Val1593Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538087" }, { "coordinates": [ { "allele": "A", "end": 5103, "referenceAllele": "G", "start": 5102 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_017002028.1:c.4789G>A" ], "proteinEffect": { "hgvs": "XP_016857517.1:p.Val1597Ile", "hgvsWellDefined": "XP_016857517.1:p.Val1597Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS558067" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_002957299.1:n.5124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603435" }, { "coordinates": [ { "allele": "A", "end": 5124, "referenceAllele": "G", "start": 5123 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.2:n.5124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615229" }, { "@id": "http://reg.genome.network/allele/PA306854", "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.3:c.4780G>A" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Val1594Ile", "hgvsWellDefined": "NP_001026.2:p.Val1594Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS663078", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.4780G>A" }, "RefSeq": { "hgvs": "NM_001035.3:c.4780G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Val1594Ile" }, "RefSeq": { "hgvs": "NP_001026.2:p.Val1594Ile" } } } } ], "type": "nucleotide" }