Canonical Allele Identifier: CA358394

Gene: CSNK2A1

Linked Data

• ClinVar Variation Id: 224790
• ClinVar RCV Id: RCV000210367 ; RCV000239482 ; RCV001267578 ; RCV001420211 ; RCV002273990
• dbSNP Id: rs869312840
• gnomAD v2: 20-472926-T-C
• gnomAD v4: 20-492282-T-C
• MyVariant Identifiers: chr20:g.472926T>C (hg19) ; chr20:g.492282T>C (hg38)
• PubMed: PMID:25363768 ; PMID:27048600 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.492282T>C , CM000682.2:g.492282T>C	GRCh38
NC_000020.10:g.472926T>C , CM000682.1:g.472926T>C	GRCh37
NC_000020.9:g.420926T>C	NCBI36
NG_011970.1:g.56557A>G
NG_011970.2:g.56557A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217244.9:c.593A>G MANE Select	ENSP00000217244.3:p.Lys198Arg
ENST00000349736.10:c.185A>G	ENSP00000339247.6:p.Lys62Arg
ENST00000400217.7:c.593A>G	ENSP00000383076.2:p.Lys198Arg
ENST00000400227.8:c.593A>G	ENSP00000383086.3:p.Lys198Arg
ENST00000642689.1:c.542A>G	ENSP00000495414.1:p.Lys181Arg
ENST00000643600.1:c.593A>G	ENSP00000494038.1:p.Lys198Arg
ENST00000643641.1:n.643A>G
ENST00000643660.1:c.593A>G	ENSP00000495248.1:p.Lys198Arg
ENST00000643680.1:c.593A>G	ENSP00000493704.1:p.Lys198Arg
ENST00000643700.1:n.1270A>G
ENST00000643980.1:n.1486A>G
ENST00000644003.1:c.185A>G	ENSP00000495387.1:p.Lys62Arg
ENST00000644170.1:n.760A>G
ENST00000644448.1:n.1093A>G
ENST00000644710.1:c.542A>G	ENSP00000493791.1:p.Lys181Arg
ENST00000644885.1:c.509A>G	ENSP00000496146.1:p.Lys170Arg
ENST00000645234.1:c.593A>G	ENSP00000494288.1:p.Lys198Arg
ENST00000645249.1:c.*666A>G	ENSP00000496152.1:n.*666A>G
ENST00000645260.1:c.482A>G	ENSP00000493931.1:p.Lys161Arg
ENST00000645334.1:n.436A>G
ENST00000645623.1:c.593A>G	ENSP00000495998.1:p.Lys198Arg
ENST00000645768.1:n.1220A>G
ENST00000645840.1:c.*411A>G	ENSP00000494445.1:n.*411A>G
ENST00000645910.1:c.*345A>G	ENSP00000493697.1:n.*345A>G
ENST00000646305.1:c.593A>G	ENSP00000495902.1:p.Lys198Arg
ENST00000646477.1:c.185A>G	ENSP00000495439.1:p.Lys62Arg
ENST00000646561.1:c.593A>G	ENSP00000496569.1:p.Lys198Arg
ENST00000646814.1:c.593A>G	ENSP00000495422.1:p.Lys198Arg
ENST00000647026.1:c.511-2401A>G	ENSP00000494370.1:n.511-2401A>G
ENST00000647155.1:n.758A>G
ENST00000647348.1:c.593A>G	ENSP00000495912.1:p.Lys198Arg
ENST00000217244.7:c.593A>G	ENSP00000217244.3:p.Lys198Arg
ENST00000349736.9:c.593A>G	ENSP00000339247.5:p.Lys198Arg
ENST00000400217.6:c.185A>G	ENSP00000383076.1:p.Lys62Arg
ENST00000400227.7:c.593A>G	ENSP00000383086.3:p.Lys198Arg
ENST00000619188.4:c.593A>G	ENSP00000479630.1:p.Lys198Arg
NM_001895.3:c.593A>G	NP_001886.1:p.Lys198Arg
NM_177559.2:c.593A>G	NP_808227.1:p.Lys198Arg
NM_177560.2:c.185A>G	NP_808228.1:p.Lys62Arg
XM_011529175.1:c.593A>G	XP_011527477.1:p.Lys198Arg
XM_011529176.1:c.185A>G	XP_011527478.1:p.Lys62Arg
NM_001362770.1:c.593A>G	NP_001349699.1:p.Lys198Arg
NM_001362771.1:c.593A>G	NP_001349700.1:p.Lys198Arg
NM_177559.3:c.593A>G MANE Select	NP_808227.1:p.Lys198Arg
NM_001362770.2:c.593A>G	NP_001349699.1:p.Lys198Arg
NM_001362771.2:c.593A>G	NP_001349700.1:p.Lys198Arg
NM_001895.4:c.593A>G	NP_001886.1:p.Lys198Arg
NM_177560.3:c.185A>G	NP_808228.1:p.Lys62Arg