Canonical Allele Identifier: CA411097812

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696978C>A , CM000684.2:g.28696978C>A	GRCh38
NC_000022.10:g.29092966C>A , CM000684.1:g.29092966C>A	GRCh37
NC_000022.9:g.27422966C>A	NCBI36
NG_008150.1:g.49857G>T
NG_008150.2:g.49889G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1018G>T MANE Select	NP_009125.1:p.Glu340Ter
ENST00000404276.6:c.1018G>T MANE Select	ENSP00000385747.1:p.Glu340Ter
NM_001005735.1:c.1147G>T	NP_001005735.1:p.Glu383Ter
NM_001005735.2:c.1147G>T	NP_001005735.1:p.Glu383Ter
NM_001257387.1:c.355G>T	NP_001244316.1:p.Glu119Ter
NM_001257387.2:c.355G>T	NP_001244316.1:p.Glu119Ter
NM_001349956.1:c.817G>T	NP_001336885.1:p.Glu273Ter
NM_001349956.2:c.817G>T	NP_001336885.1:p.Glu273Ter
NM_007194.3:c.1018G>T	NP_009125.1:p.Glu340Ter
NM_145862.2:c.1009-1105G>T	NP_665861.1:n.1009-1105G>T
ENST00000328354.10:c.1018G>T	ENSP00000329178.6:p.Glu340Ter
ENST00000348295.7:c.1009-1105G>T	ENSP00000329012.5:n.1009-1105G>T
ENST00000382580.6:c.1147G>T	ENSP00000372023.2:p.Glu383Ter
ENST00000402731.5:c.1009-1105G>T	ENSP00000384835.1:n.1009-1105G>T
ENST00000402731.6:c.817G>T	ENSP00000384835.2:p.Glu273Ter
ENST00000403642.5:c.745G>T	ENSP00000384919.1:p.Glu249Ter
ENST00000404276.5:c.1018G>T	ENSP00000385747.1:p.Glu340Ter
ENST00000405598.5:c.1018G>T	ENSP00000386087.1:p.Glu340Ter
ENST00000416671.5:c.*508G>T	ENSP00000402225.1:n.*508G>T
ENST00000417588.5:c.927G>T	ENSP00000412901.1:n.927G>T
ENST00000425190.6:c.355G>T	ENSP00000390244.1:p.Glu119Ter
ENST00000425190.7:c.355G>T	ENSP00000390244.2:p.Glu119Ter
ENST00000433028.6:c.*743G>T	ENSP00000403659.1:n.*743G>T
ENST00000433728.5:c.956G>T	ENSP00000404400.1:n.956G>T
ENST00000434810.5:c.249G>T
ENST00000447421.5:c.817G>T	ENSP00000397478.2:p.Glu273Ter
ENST00000448511.5:c.908G>T	ENSP00000404567.1:n.908G>T
ENST00000456369.5:c.263+2860G>T
ENST00000464581.5:c.358G>T	ENSP00000483777.1:p.Glu120Ter
ENST00000464581.6:c.358G>T	ENSP00000483777.2:p.Glu120Ter
ENST00000491919.5:n.575G>T
ENST00000648295.1:n.570G>T
ENST00000649563.1:c.355G>T	ENSP00000496928.1:p.Glu119Ter
ENST00000650281.1:c.1018G>T	ENSP00000497000.1:p.Glu340Ter
ENST00000711048.1:c.1009-1736G>T	ENSP00000518557.1:n.1009-1736G>T
XM_006724114.2:c.538G>T	XP_006724177.1:p.Glu180Ter
XM_006724114.3:c.571G>T	XP_006724177.2:p.Glu191Ter
XM_006724116.2:c.475G>T	XP_006724179.2:p.Glu159Ter
XM_011529839.1:c.1177G>T	XP_011528141.1:p.Glu393Ter
XM_011529839.2:c.1177G>T	XP_011528141.1:p.Glu393Ter
XM_011529840.1:c.1168-1105G>T	XP_011528142.1:n.1168-1105G>T
XM_011529840.3:c.1168-1105G>T	XP_011528142.1:n.1168-1105G>T
XM_011529841.1:c.946G>T	XP_011528143.1:p.Glu316Ter
XM_011529842.1:c.847G>T	XP_011528144.1:p.Glu283Ter
XM_011529842.2:c.847G>T	XP_011528144.1:p.Glu283Ter
XM_011529843.1:c.817G>T	XP_011528145.1:p.Glu273Ter
XM_011529845.1:c.355G>T	XP_011528147.1:p.Glu119Ter
XM_011529845.2:c.355G>T	XP_011528147.1:p.Glu119Ter
XM_017028560.1:c.1141G>T	XP_016884049.1:p.Glu381Ter
XM_017028561.2:c.355G>T	XP_016884050.1:p.Glu119Ter
XM_024452148.1:c.1048G>T	XP_024307916.1:p.Glu350Ter
XM_024452149.1:c.1039-1105G>T	XP_024307917.1:n.1039-1105G>T
XR_937805.1:n.1177G>T
XR_937805.2:n.1188G>T
XR_937806.1:n.1163-1105G>T
XR_937806.2:n.1179-1105G>T