Canonical Allele Identifier: CA411103471

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28712004C>A , CM000684.2:g.28712004C>A	GRCh38
NC_000022.10:g.29107992C>A , CM000684.1:g.29107992C>A	GRCh37
NC_000022.9:g.27437992C>A	NCBI36
NG_008150.1:g.34831G>T
NG_008150.2:g.34863G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.697G>T MANE Select	NP_009125.1:p.Glu233Ter
ENST00000404276.6:c.697G>T MANE Select	ENSP00000385747.1:p.Glu233Ter
NM_001005735.1:c.826G>T	NP_001005735.1:p.Glu276Ter
NM_001005735.2:c.826G>T	NP_001005735.1:p.Glu276Ter
NM_001257387.1:c.34G>T	NP_001244316.1:p.Glu12Ter
NM_001257387.2:c.34G>T	NP_001244316.1:p.Glu12Ter
NM_001349956.1:c.496G>T	NP_001336885.1:p.Glu166Ter
NM_001349956.2:c.496G>T	NP_001336885.1:p.Glu166Ter
NM_007194.3:c.697G>T	NP_009125.1:p.Glu233Ter
NM_145862.2:c.697G>T	NP_665861.1:p.Glu233Ter
ENST00000328354.10:c.697G>T	ENSP00000329178.6:p.Glu233Ter
ENST00000348295.7:c.697G>T	ENSP00000329012.5:p.Glu233Ter
ENST00000382580.6:c.826G>T	ENSP00000372023.2:p.Glu276Ter
ENST00000402731.5:c.697G>T	ENSP00000384835.1:p.Glu233Ter
ENST00000402731.6:c.496G>T	ENSP00000384835.2:p.Glu166Ter
ENST00000403642.5:c.424G>T	ENSP00000384919.1:p.Glu142Ter
ENST00000404276.5:c.697G>T	ENSP00000385747.1:p.Glu233Ter
ENST00000405598.5:c.697G>T	ENSP00000386087.1:p.Glu233Ter
ENST00000416671.5:c.*187G>T	ENSP00000402225.1:n.*187G>T
ENST00000417588.5:c.606G>T	ENSP00000412901.1:p.Glu202Asp
ENST00000425190.6:c.34G>T	ENSP00000390244.1:p.Glu12Ter
ENST00000425190.7:c.34G>T	ENSP00000390244.2:p.Glu12Ter
ENST00000433028.6:c.*422G>T	ENSP00000403659.1:n.*422G>T
ENST00000433728.5:c.697G>T	ENSP00000404400.1:p.Glu233Ter
ENST00000439200.5:c.790G>T	ENSP00000408065.1:p.Glu264Ter
ENST00000439346.5:c.168G>T	ENSP00000396903.1:p.Glu56Asp
ENST00000439346.6:c.606G>T	ENSP00000396903.2:p.Glu202Asp
ENST00000447421.5:c.496G>T	ENSP00000397478.2:p.Glu166Ter
ENST00000448511.5:c.587G>T	ENSP00000404567.1:n.587G>T
ENST00000464581.5:c.37G>T	ENSP00000483777.1:p.Glu13Ter
ENST00000464581.6:c.37G>T	ENSP00000483777.2:p.Glu13Ter
ENST00000491919.5:n.254G>T
ENST00000648295.1:n.249G>T
ENST00000649563.1:c.34G>T	ENSP00000496928.1:p.Glu12Ter
ENST00000650281.1:c.697G>T	ENSP00000497000.1:p.Glu233Ter
ENST00000711048.1:c.697G>T	ENSP00000518557.1:p.Glu233Ter
XM_006724114.2:c.217G>T	XP_006724177.1:p.Glu73Ter
XM_006724114.3:c.250G>T	XP_006724177.2:p.Glu84Ter
XM_006724116.2:c.154G>T	XP_006724179.2:p.Glu52Ter
XM_011529839.1:c.856G>T	XP_011528141.1:p.Glu286Ter
XM_011529839.2:c.856G>T	XP_011528141.1:p.Glu286Ter
XM_011529840.1:c.856G>T	XP_011528142.1:p.Glu286Ter
XM_011529840.3:c.856G>T	XP_011528142.1:p.Glu286Ter
XM_011529841.1:c.625G>T	XP_011528143.1:p.Glu209Ter
XM_011529842.1:c.526G>T	XP_011528144.1:p.Glu176Ter
XM_011529842.2:c.526G>T	XP_011528144.1:p.Glu176Ter
XM_011529843.1:c.496G>T	XP_011528145.1:p.Glu166Ter
XM_011529844.1:c.856G>T	XP_011528146.1:p.Glu286Ter
XM_011529844.2:c.856G>T	XP_011528146.1:p.Glu286Ter
XM_011529845.1:c.34G>T	XP_011528147.1:p.Glu12Ter
XM_011529845.2:c.34G>T	XP_011528147.1:p.Glu12Ter
XM_017028560.1:c.820G>T	XP_016884049.1:p.Glu274Ter
XM_017028561.2:c.34G>T	XP_016884050.1:p.Glu12Ter
XM_024452148.1:c.727G>T	XP_024307916.1:p.Glu243Ter
XM_024452149.1:c.727G>T	XP_024307917.1:p.Glu243Ter
XR_937805.1:n.918G>T
XR_937805.2:n.929G>T
XR_937806.1:n.913G>T
XR_937806.2:n.929G>T
XR_937807.1:n.913G>T
XR_937807.2:n.929G>T