Canonical Allele Identifier: CA501023

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28719466C>A , CM000684.2:g.28719466C>A	GRCh38
NC_000022.10:g.29115454C>A , CM000684.1:g.29115454C>A	GRCh37
NC_000022.9:g.27445454C>A	NCBI36
NG_008150.1:g.27369G>T
NG_008150.2:g.27401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.592+5511G>T	ENSP00000396903.2:n.592+5511G>T
ENST00000711048.1:c.612G>T	ENSP00000518557.1:p.Leu204=
ENST00000402731.6:c.482+5420G>T	ENSP00000384835.2:n.482+5420G>T
ENST00000404276.6:c.612G>T MANE Select	ENSP00000385747.1:p.Leu204=
ENST00000425190.7:c.-52G>T	ENSP00000390244.2:n.-52G>T
ENST00000649563.1:c.-52G>T	ENSP00000496928.1:n.-52G>T
ENST00000650281.1:c.612G>T	ENSP00000497000.1:p.Leu204=
ENST00000328354.10:c.612G>T	ENSP00000329178.6:p.Leu204=
ENST00000348295.7:c.612G>T	ENSP00000329012.5:p.Leu204=
ENST00000382580.6:c.741G>T	ENSP00000372023.2:p.Leu247=
ENST00000402731.5:c.612G>T	ENSP00000384835.1:p.Leu204=
ENST00000403642.5:c.339G>T	ENSP00000384919.1:p.Leu113=
ENST00000404276.5:c.612G>T	ENSP00000385747.1:p.Leu204=
ENST00000405598.5:c.612G>T	ENSP00000386087.1:p.Leu204=
ENST00000416671.5:c.*102G>T	ENSP00000402225.1:n.*102G>T
ENST00000417588.5:c.592+5511G>T	ENSP00000412901.1:n.592+5511G>T
ENST00000425190.6:c.-52G>T	ENSP00000390244.1:n.-52G>T
ENST00000433028.6:c.*337G>T	ENSP00000403659.1:n.*337G>T
ENST00000433728.5:c.612G>T	ENSP00000404400.1:p.Leu204=
ENST00000439200.5:c.705G>T	ENSP00000408065.1:p.Leu235=
ENST00000439346.5:c.154+5511G>T	ENSP00000396903.1:n.154+5511G>T
ENST00000447421.5:c.482+5420G>T	ENSP00000397478.2:n.482+5420G>T
ENST00000448511.5:c.502G>T	ENSP00000404567.1:n.502G>T
NM_001005735.1:c.741G>T	NP_001005735.1:p.Leu247=
NM_001257387.1:c.-52G>T	NP_001244316.1:n.-52G>T
NM_007194.3:c.612G>T	NP_009125.1:p.Leu204=
NM_145862.2:c.612G>T	NP_665861.1:p.Leu204=
XM_011529839.1:c.771G>T	XP_011528141.1:p.Leu257=
XM_011529840.1:c.771G>T	XP_011528142.1:p.Leu257=
XM_011529841.1:c.611+5420G>T	XP_011528143.1:n.611+5420G>T
XM_011529842.1:c.512+5420G>T	XP_011528144.1:n.512+5420G>T
XM_011529843.1:c.482+5420G>T	XP_011528145.1:n.482+5420G>T
XM_011529844.1:c.771G>T	XP_011528146.1:p.Leu257=
XM_011529845.1:c.-52G>T	XP_011528147.1:n.-52G>T
XR_937805.1:n.833G>T
XR_937806.1:n.828G>T
XR_937807.1:n.828G>T
NM_001349956.1:c.482+5420G>T	NP_001336885.1:n.482+5420G>T
NM_007194.4:c.612G>T MANE Select	NP_009125.1:p.Leu204=
XM_011529839.2:c.771G>T	XP_011528141.1:p.Leu257=
XM_011529840.3:c.771G>T	XP_011528142.1:p.Leu257=
XM_011529842.2:c.512+5420G>T	XP_011528144.1:n.512+5420G>T
XM_011529844.2:c.771G>T	XP_011528146.1:p.Leu257=
XM_011529845.2:c.-52G>T	XP_011528147.1:n.-52G>T
XM_017028560.1:c.735G>T	XP_016884049.1:p.Leu245=
XM_017028561.2:c.-52G>T	XP_016884050.1:n.-52G>T
XM_024452148.1:c.642G>T	XP_024307916.1:p.Leu214=
XM_024452149.1:c.642G>T	XP_024307917.1:p.Leu214=
XR_937805.2:n.844G>T
XR_937806.2:n.844G>T
XR_937807.2:n.844G>T
NM_001005735.2:c.741G>T	NP_001005735.1:p.Leu247=
NM_001257387.2:c.-52G>T	NP_001244316.1:n.-52G>T
NM_001349956.2:c.482+5420G>T	NP_001336885.1:n.482+5420G>T