Canonical Allele Identifier: CA299116

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 182455
• ClinVar RCV Id: RCV000160455
• dbSNP Id: rs137853010
• MyVariant Identifiers: chr22:g.29121016G>C (hg19) ; chr22:g.28725028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725028G>C , CM000684.2:g.28725028G>C	GRCh38
NC_000022.10:g.29121016G>C , CM000684.1:g.29121016G>C	GRCh37
NC_000022.9:g.27451016G>C	NCBI36
NG_008150.1:g.21807C>G
NG_008150.2:g.21839C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.541C>G	ENSP00000396903.2:p.Arg181Gly
ENST00000454252.2:c.*521C>G	ENSP00000387451.2:n.*521C>G
ENST00000711048.1:c.541C>G	ENSP00000518557.1:p.Arg181Gly
ENST00000402731.6:c.445-105C>G	ENSP00000384835.2:n.445-105C>G
ENST00000404276.6:c.541C>G MANE Select	ENSP00000385747.1:p.Arg181Gly
ENST00000425190.7:c.-123C>G	ENSP00000390244.2:n.-123C>G
ENST00000649563.1:c.-71-5543C>G	ENSP00000496928.1:n.-71-5543C>G
ENST00000650281.1:c.541C>G	ENSP00000497000.1:p.Arg181Gly
ENST00000328354.10:c.541C>G	ENSP00000329178.6:p.Arg181Gly
ENST00000348295.7:c.541C>G	ENSP00000329012.5:p.Arg181Gly
ENST00000382565.5:c.541C>G	ENSP00000372006.2:p.Arg181Gly
ENST00000382580.6:c.670C>G	ENSP00000372023.2:p.Arg224Gly
ENST00000402731.5:c.541C>G	ENSP00000384835.1:p.Arg181Gly
ENST00000403642.5:c.320-5543C>G	ENSP00000384919.1:n.320-5543C>G
ENST00000404276.5:c.541C>G	ENSP00000385747.1:p.Arg181Gly
ENST00000405598.5:c.541C>G	ENSP00000386087.1:p.Arg181Gly
ENST00000416671.5:c.541C>G	ENSP00000402225.1:p.Arg181Gly
ENST00000417588.5:c.541C>G	ENSP00000412901.1:p.Arg181Gly
ENST00000425190.6:c.-123C>G	ENSP00000390244.1:n.-123C>G
ENST00000433028.6:c.445-105C>G	ENSP00000403659.1:n.445-105C>G
ENST00000433728.5:c.541C>G	ENSP00000404400.1:p.Arg181Gly
ENST00000439200.5:c.634C>G	ENSP00000408065.1:p.Arg212Gly
ENST00000439346.5:c.103C>G	ENSP00000396903.1:p.Arg35Gly
ENST00000447421.5:c.445-105C>G	ENSP00000397478.2:n.445-105C>G
ENST00000448511.5:c.445-105C>G	ENSP00000404567.1:n.445-105C>G
ENST00000454252.1:c.659C>G	ENSP00000387451.1:n.659C>G
NM_001005735.1:c.670C>G	NP_001005735.1:p.Arg224Gly
NM_001257387.1:c.-237C>G	NP_001244316.1:n.-237C>G
NM_007194.3:c.541C>G	NP_009125.1:p.Arg181Gly
NM_145862.2:c.541C>G	NP_665861.1:p.Arg181Gly
XM_011529839.1:c.700C>G	XP_011528141.1:p.Arg234Gly
XM_011529840.1:c.700C>G	XP_011528142.1:p.Arg234Gly
XM_011529841.1:c.574-105C>G	XP_011528143.1:n.574-105C>G
XM_011529842.1:c.475-105C>G	XP_011528144.1:n.475-105C>G
XM_011529843.1:c.445-105C>G	XP_011528145.1:n.445-105C>G
XM_011529844.1:c.700C>G	XP_011528146.1:p.Arg234Gly
XM_011529845.1:c.-123C>G	XP_011528147.1:n.-123C>G
XR_937805.1:n.762C>G
XR_937806.1:n.757C>G
XR_937807.1:n.757C>G
NM_001349956.1:c.445-105C>G	NP_001336885.1:n.445-105C>G
NM_007194.4:c.541C>G MANE Select	NP_009125.1:p.Arg181Gly
XM_011529839.2:c.700C>G	XP_011528141.1:p.Arg234Gly
XM_011529840.3:c.700C>G	XP_011528142.1:p.Arg234Gly
XM_011529842.2:c.475-105C>G	XP_011528144.1:n.475-105C>G
XM_011529844.2:c.700C>G	XP_011528146.1:p.Arg234Gly
XM_011529845.2:c.-123C>G	XP_011528147.1:n.-123C>G
XM_017028560.1:c.664C>G	XP_016884049.1:p.Arg222Gly
XM_024452148.1:c.571C>G	XP_024307916.1:p.Arg191Gly
XM_024452149.1:c.571C>G	XP_024307917.1:p.Arg191Gly
XR_937805.2:n.773C>G
XR_937806.2:n.773C>G
XR_937807.2:n.773C>G
NM_001005735.2:c.670C>G	NP_001005735.1:p.Arg224Gly
NM_001257387.2:c.-237C>G	NP_001244316.1:n.-237C>G
NM_001349956.2:c.445-105C>G	NP_001336885.1:n.445-105C>G