{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA086469", "communityStandardTitle": [ "NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515742[alleleid]", "alleleId": 515742, "preferredName": "NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/532382", "RCV": [ "RCV002358807", "RCV002529935", "RCV003328611" ], "variationId": 532382 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-237753968-G-C", "id": "1-237753968-G-C", "variant": "1:237753968 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237753968G>C?assembly=hg19", "id": "chr1:g.237753968G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237590668G>C?assembly=hg38", "id": "chr1:g.237590668G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751419465", "rs": 751419465 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237753968-G-C?dataset=gnomad_r2_1", "id": "1-237753968-G-C", "variant": "1:237753968 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237590668-G-C?dataset=gnomad_r3", "id": "1-237590668-G-C", "variant": "1:237590668 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-237590668-G-C?dataset=gnomad_r4", "id": "1-237590668-G-C", "variant": "1:237590668 G / C" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 237590668, "referenceAllele": "G", "start": 237590667 } ], "hgvs": [ "NC_000001.11:g.237590668G>C", "CM000663.2:g.237590668G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 237753968, "referenceAllele": "G", "start": 237753967 } ], "hgvs": [ "NC_000001.10:g.237753968G>C", "CM000663.1:g.237753968G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 235820591, "referenceAllele": "G", "start": 235820590 } ], "hgvs": [ "NC_000001.9:g.235820591G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 553267, "referenceAllele": "G", "start": 553266 } ], "hgvs": [ "NG_008799.2:g.553267G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001219" }, { "coordinates": [ { "allele": "C", "end": 553485, "referenceAllele": "G", "start": 553484 } ], "hgvs": [ "NG_008799.3:g.553485G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS706088" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000609119.2:c.3836G>C" ], "proteinEffect": { "hgvs": "ENSP00000499659.2:p.Ser1279Thr", "hgvsWellDefined": "ENSP00000499659.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914356" }, { "coordinates": [ { "allele": "C", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000659194.3:c.3836G>C" ], "proteinEffect": { "hgvs": "ENSP00000499653.3:p.Ser1279Thr", "hgvsWellDefined": "ENSP00000499653.3:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914438" }, { "coordinates": [ { "allele": "C", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000660292.2:c.3836G>C" ], "proteinEffect": { "hgvs": "ENSP00000499787.2:p.Ser1279Thr", "hgvsWellDefined": "ENSP00000499787.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914439" }, { "coordinates": [ { "allele": "C", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.7:c.3836G>C" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Ser1279Thr", "hgvsWellDefined": "ENSP00000355533.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.3836G>C" }, "RefSeq": { "hgvs": "NM_001035.3:c.3836G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Ser1279Thr" }, "RefSeq": { "hgvs": "NP_001026.2:p.Ser1279Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 3788, "referenceAllele": "G", "start": 3787 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000360064.7:c.3788G>C" ], "proteinEffect": { "hgvs": "ENSP00000353174.7:p.Ser1263Thr", "hgvsWellDefined": "ENSP00000353174.7:p.Ser1263Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247386" }, { "coordinates": [ { "allele": "C", "end": 4153, "referenceAllele": "G", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "ENST00000366574.6:c.3836G>C" ], "proteinEffect": { "hgvs": "ENSP00000355533.2:p.Ser1279Thr", "hgvsWellDefined": "ENSP00000355533.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247208" }, { "@id": "http://reg.genome.network/allele/PA658801614", "coordinates": [ { "allele": "C", "end": 3956, "referenceAllele": "G", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.2:c.3836G>C" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Ser1279Thr", "hgvsWellDefined": "NP_001026.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009205" }, { "coordinates": [ { "allele": "C", "end": 4077, "referenceAllele": "G", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711865.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069300" }, { "coordinates": [ { "allele": "C", "end": 4074, "referenceAllele": "G", "start": 4073 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.2:c.3833G>C" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Ser1278Thr", "hgvsWellDefined": "XP_006711866.1:p.Ser1278Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069301" }, { "coordinates": [ { "allele": "C", "end": 4076, "referenceAllele": "G", "start": 4075 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711867.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069302" }, { "coordinates": [ { "allele": "C", "end": 4072, "referenceAllele": "G", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711868.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069303" }, { "coordinates": [ { "allele": "C", "end": 4077, "referenceAllele": "G", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711869.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069304" }, { "coordinates": [ { "allele": "C", "end": 4077, "referenceAllele": "G", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711870.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069305" }, { "coordinates": [ { "allele": "C", "end": 4075, "referenceAllele": "G", "start": 4074 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711871.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069306" }, { "coordinates": [ { "allele": "C", "end": 4120, "referenceAllele": "G", "start": 4119 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711809.2:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711872.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711872.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069307" }, { "coordinates": [ { "allele": "C", "end": 4073, "referenceAllele": "G", "start": 4072 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.2:c.3833G>C" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Ser1278Thr", "hgvsWellDefined": "XP_006711873.1:p.Ser1278Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069308" }, { "coordinates": [ { "allele": "C", "end": 4117, "referenceAllele": "G", "start": 4116 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.1:n.4117G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS142730" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711802.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711865.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711865.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538080" }, { "coordinates": [ { "allele": "C", "end": 4147, "referenceAllele": "G", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711803.3:c.3833G>C" ], "proteinEffect": { "hgvs": "XP_006711866.1:p.Ser1278Thr", "hgvsWellDefined": "XP_006711866.1:p.Ser1278Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538081" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711804.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711867.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711867.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538082" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711805.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711868.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711868.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538083" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711806.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711869.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711869.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538084" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711807.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711870.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711870.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538085" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711808.3:c.3836G>C" ], "proteinEffect": { "hgvs": "XP_006711871.1:p.Ser1279Thr", "hgvsWellDefined": "XP_006711871.1:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538086" }, { "coordinates": [ { "allele": "C", "end": 4147, "referenceAllele": "G", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_006711810.3:c.3833G>C" ], "proteinEffect": { "hgvs": "XP_006711873.1:p.Ser1278Thr", "hgvsWellDefined": "XP_006711873.1:p.Ser1278Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538087" }, { "coordinates": [ { "allele": "C", "end": 4129, "referenceAllele": "G", "start": 4128 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XM_017002028.1:c.3815G>C" ], "proteinEffect": { "hgvs": "XP_016857517.1:p.Ser1272Thr", "hgvsWellDefined": "XP_016857517.1:p.Ser1272Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS558067" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_002957299.1:n.4150G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS603435" }, { "coordinates": [ { "allele": "C", "end": 4150, "referenceAllele": "G", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "XR_949152.2:n.4150G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS615229" }, { "@id": "http://reg.genome.network/allele/PA658801614", "coordinates": [ { "allele": "C", "end": 4174, "referenceAllele": "G", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN010484", "geneNCBI_id": 6262, "geneSymbol": "RYR2", "hgvs": [ "NM_001035.3:c.3836G>C" ], "proteinEffect": { "hgvs": "NP_001026.2:p.Ser1279Thr", "hgvsWellDefined": "NP_001026.2:p.Ser1279Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS663078", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366574.7:c.3836G>C" }, "RefSeq": { "hgvs": "NM_001035.3:c.3836G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355533.2:p.Ser1279Thr" }, "RefSeq": { "hgvs": "NP_001026.2:p.Ser1279Thr" } } } } ], "type": "nucleotide" }