Canonical Allele Identifier: CA411101095

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28703530C>T , CM000684.2:g.28703530C>T	GRCh38
NC_000022.10:g.29099518C>T , CM000684.1:g.29099518C>T	GRCh37
NC_000022.9:g.27429518C>T	NCBI36
NG_008150.1:g.43305G>A
NG_008150.2:g.43337G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.883G>A MANE Select	NP_009125.1:p.Glu295Lys
ENST00000404276.6:c.883G>A MANE Select	ENSP00000385747.1:p.Glu295Lys
NM_001005735.1:c.1012G>A	NP_001005735.1:p.Glu338Lys
NM_001005735.2:c.1012G>A	NP_001005735.1:p.Glu338Lys
NM_001257387.1:c.220G>A	NP_001244316.1:p.Glu74Lys
NM_001257387.2:c.220G>A	NP_001244316.1:p.Glu74Lys
NM_001349956.1:c.682G>A	NP_001336885.1:p.Glu228Lys
NM_001349956.2:c.682G>A	NP_001336885.1:p.Glu228Lys
NM_007194.3:c.883G>A	NP_009125.1:p.Glu295Lys
NM_145862.2:c.883G>A	NP_665861.1:p.Glu295Lys
ENST00000328354.10:c.883G>A	ENSP00000329178.6:p.Glu295Lys
ENST00000348295.7:c.883G>A	ENSP00000329012.5:p.Glu295Lys
ENST00000382580.6:c.1012G>A	ENSP00000372023.2:p.Glu338Lys
ENST00000402731.5:c.883G>A	ENSP00000384835.1:p.Glu295Lys
ENST00000402731.6:c.682G>A	ENSP00000384835.2:p.Glu228Lys
ENST00000403642.5:c.610G>A	ENSP00000384919.1:p.Glu204Lys
ENST00000404276.5:c.883G>A	ENSP00000385747.1:p.Glu295Lys
ENST00000405598.5:c.883G>A	ENSP00000386087.1:p.Glu295Lys
ENST00000416671.5:c.*373G>A	ENSP00000402225.1:n.*373G>A
ENST00000417588.5:c.792G>A	ENSP00000412901.1:n.792G>A
ENST00000425190.6:c.220G>A	ENSP00000390244.1:p.Glu74Lys
ENST00000425190.7:c.220G>A	ENSP00000390244.2:p.Glu74Lys
ENST00000433028.6:c.*608G>A	ENSP00000403659.1:n.*608G>A
ENST00000433728.5:c.847-3593G>A	ENSP00000404400.1:n.847-3593G>A
ENST00000434810.5:c.114G>A
ENST00000439346.5:c.354G>A	ENSP00000396903.1:n.354G>A
ENST00000439346.6:c.792G>A	ENSP00000396903.2:n.792G>A
ENST00000447421.5:c.682G>A	ENSP00000397478.2:p.Glu228Lys
ENST00000448511.5:c.773G>A	ENSP00000404567.1:n.773G>A
ENST00000456369.5:c.138G>A
ENST00000464581.5:c.223G>A	ENSP00000483777.1:p.Glu75Lys
ENST00000464581.6:c.223G>A	ENSP00000483777.2:p.Glu75Lys
ENST00000491919.5:n.440G>A
ENST00000648295.1:n.435G>A
ENST00000649563.1:c.220G>A	ENSP00000496928.1:p.Glu74Lys
ENST00000650281.1:c.883G>A	ENSP00000497000.1:p.Glu295Lys
ENST00000711048.1:c.883G>A	ENSP00000518557.1:p.Glu295Lys
XM_006724114.2:c.403G>A	XP_006724177.1:p.Glu135Lys
XM_006724114.3:c.436G>A	XP_006724177.2:p.Glu146Lys
XM_006724116.2:c.340G>A	XP_006724179.2:p.Glu114Lys
XM_011529839.1:c.1042G>A	XP_011528141.1:p.Glu348Lys
XM_011529839.2:c.1042G>A	XP_011528141.1:p.Glu348Lys
XM_011529840.1:c.1042G>A	XP_011528142.1:p.Glu348Lys
XM_011529840.3:c.1042G>A	XP_011528142.1:p.Glu348Lys
XM_011529841.1:c.811G>A	XP_011528143.1:p.Glu271Lys
XM_011529842.1:c.712G>A	XP_011528144.1:p.Glu238Lys
XM_011529842.2:c.712G>A	XP_011528144.1:p.Glu238Lys
XM_011529843.1:c.682G>A	XP_011528145.1:p.Glu228Lys
XM_011529844.1:c.1042G>A	XP_011528146.1:p.Glu348Lys
XM_011529844.2:c.1042G>A	XP_011528146.1:p.Glu348Lys
XM_011529845.1:c.220G>A	XP_011528147.1:p.Glu74Lys
XM_011529845.2:c.220G>A	XP_011528147.1:p.Glu74Lys
XM_017028560.1:c.1006G>A	XP_016884049.1:p.Glu336Lys
XM_017028561.2:c.220G>A	XP_016884050.1:p.Glu74Lys
XM_024452148.1:c.913G>A	XP_024307916.1:p.Glu305Lys
XM_024452149.1:c.913G>A	XP_024307917.1:p.Glu305Lys
XR_937805.1:n.1068-3593G>A
XR_937805.2:n.1079-3593G>A
XR_937806.1:n.1063-3593G>A
XR_937806.2:n.1079-3593G>A
XR_937807.1:n.1063-3593G>A
XR_937807.2:n.1079-3593G>A