Canonical Allele Identifier: CA2400240249

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699926C= , CM000684.2:g.28699926C=	GRCh38
NC_000022.10:g.29095914C= , CM000684.1:g.29095914C=	GRCh37
NC_000022.9:g.27425914C=	NCBI36
NG_008150.1:g.46909G=
NG_008150.2:g.46941G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.829G=	ENSP00000396903.2:n.829G=
ENST00000711048.1:c.920G=	ENSP00000518557.1:p.Gly307=
ENST00000402731.6:c.719G=	ENSP00000384835.2:p.Gly240=
ENST00000404276.6:c.920G= MANE Select	ENSP00000385747.1:p.Gly307=
ENST00000425190.7:c.257G=	ENSP00000390244.2:p.Gly86=
ENST00000464581.6:c.260G=	ENSP00000483777.2:p.Gly87=
ENST00000648295.1:n.472G=
ENST00000649563.1:c.257G=	ENSP00000496928.1:p.Gly86=
ENST00000650281.1:c.920G=	ENSP00000497000.1:p.Gly307=
ENST00000328354.10:c.920G=	ENSP00000329178.6:p.Gly307=
ENST00000348295.7:c.920G=	ENSP00000329012.5:p.Gly307=
ENST00000382580.6:c.1049G=	ENSP00000372023.2:p.Gly350=
ENST00000402731.5:c.920G=	ENSP00000384835.1:p.Gly307=
ENST00000403642.5:c.647G=	ENSP00000384919.1:p.Gly216=
ENST00000404276.5:c.920G=	ENSP00000385747.1:p.Gly307=
ENST00000405598.5:c.920G=	ENSP00000386087.1:p.Gly307=
ENST00000416671.5:c.*410G=	ENSP00000402225.1:n.*410G=
ENST00000417588.5:c.829G=	ENSP00000412901.1:n.829G=
ENST00000425190.6:c.257G=	ENSP00000390244.1:p.Gly86=
ENST00000433028.6:c.*645G=	ENSP00000403659.1:n.*645G=
ENST00000433728.5:c.858G=	ENSP00000404400.1:p.Gly286=
ENST00000434810.5:c.151G=
ENST00000439346.5:c.391G=	ENSP00000396903.1:n.391G=
ENST00000447421.5:c.719G=	ENSP00000397478.2:p.Gly240=
ENST00000448511.5:c.810G=	ENSP00000404567.1:n.810G=
ENST00000456369.5:c.175G=
ENST00000464581.5:c.260G=	ENSP00000483777.1:p.Gly87=
ENST00000491919.5:n.477G=
NM_001005735.1:c.1049G=	NP_001005735.1:p.Gly350=
NM_001257387.1:c.257G=	NP_001244316.1:p.Gly86=
NM_007194.3:c.920G=	NP_009125.1:p.Gly307=
NM_145862.2:c.920G=	NP_665861.1:p.Gly307=
XM_006724114.2:c.440G=	XP_006724177.1:p.Gly147=
XM_006724116.2:c.377G=	XP_006724179.2:p.Gly126=
XM_011529839.1:c.1079G=	XP_011528141.1:p.Gly360=
XM_011529840.1:c.1079G=	XP_011528142.1:p.Gly360=
XM_011529841.1:c.848G=	XP_011528143.1:p.Gly283=
XM_011529842.1:c.749G=	XP_011528144.1:p.Gly250=
XM_011529843.1:c.719G=	XP_011528145.1:p.Gly240=
XM_011529844.1:c.1079G=	XP_011528146.1:p.Gly360=
XM_011529845.1:c.257G=	XP_011528147.1:p.Gly86=
XR_937805.1:n.1079G=
XR_937806.1:n.1074G=
XR_937807.1:n.1074G=
NM_001349956.1:c.719G=	NP_001336885.1:p.Gly240=
NM_007194.4:c.920G= MANE Select	NP_009125.1:p.Gly307=
XM_006724114.3:c.473G=	XP_006724177.2:p.Gly158=
XM_011529839.2:c.1079G=	XP_011528141.1:p.Gly360=
XM_011529840.3:c.1079G=	XP_011528142.1:p.Gly360=
XM_011529842.2:c.749G=	XP_011528144.1:p.Gly250=
XM_011529844.2:c.1079G=	XP_011528146.1:p.Gly360=
XM_011529845.2:c.257G=	XP_011528147.1:p.Gly86=
XM_017028560.1:c.1043G=	XP_016884049.1:p.Gly348=
XM_017028561.2:c.257G=	XP_016884050.1:p.Gly86=
XM_024452148.1:c.950G=	XP_024307916.1:p.Gly317=
XM_024452149.1:c.950G=	XP_024307917.1:p.Gly317=
XR_937805.2:n.1090G=
XR_937806.2:n.1090G=
XR_937807.2:n.1090G=
NM_001005735.2:c.1049G=	NP_001005735.1:p.Gly350=
NM_001257387.2:c.257G=	NP_001244316.1:p.Gly86=
NM_001349956.2:c.719G=	NP_001336885.1:p.Gly240=