Canonical Allele Identifier: CA10583903

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696924G>A , CM000684.2:g.28696924G>A	GRCh38
NC_000022.10:g.29092912G>A , CM000684.1:g.29092912G>A	GRCh37
NC_000022.9:g.27422912G>A	NCBI36
NG_008150.1:g.49911C>T
NG_008150.2:g.49943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1682C>T	ENSP00000518557.1:n.1009-1682C>T
ENST00000402731.6:c.871C>T	ENSP00000384835.2:p.Gln291Ter
ENST00000404276.6:c.1072C>T MANE Select	ENSP00000385747.1:p.Gln358Ter
ENST00000425190.7:c.409C>T	ENSP00000390244.2:p.Gln137Ter
ENST00000464581.6:c.412C>T	ENSP00000483777.2:p.Gln138Ter
ENST00000648295.1:n.624C>T
ENST00000649563.1:c.409C>T	ENSP00000496928.1:p.Gln137Ter
ENST00000650281.1:c.1072C>T	ENSP00000497000.1:p.Gln358Ter
ENST00000328354.10:c.1072C>T	ENSP00000329178.6:p.Gln358Ter
ENST00000348295.7:c.1009-1051C>T	ENSP00000329012.5:n.1009-1051C>T
ENST00000382580.6:c.1201C>T	ENSP00000372023.2:p.Gln401Ter
ENST00000402731.5:c.1009-1051C>T	ENSP00000384835.1:n.1009-1051C>T
ENST00000403642.5:c.799C>T	ENSP00000384919.1:p.Gln267Ter
ENST00000404276.5:c.1072C>T	ENSP00000385747.1:p.Gln358Ter
ENST00000405598.5:c.1072C>T	ENSP00000386087.1:p.Gln358Ter
ENST00000416671.5:c.*562C>T	ENSP00000402225.1:n.*562C>T
ENST00000417588.5:c.981C>T	ENSP00000412901.1:n.981C>T
ENST00000433028.6:c.*797C>T	ENSP00000403659.1:n.*797C>T
ENST00000433728.5:c.1010C>T	ENSP00000404400.1:n.1010C>T
ENST00000434810.5:c.303C>T
ENST00000447421.5:c.871C>T	ENSP00000397478.2:p.Gln291Ter
ENST00000448511.5:c.962C>T	ENSP00000404567.1:n.962C>T
ENST00000456369.5:c.263+2914C>T
ENST00000464581.5:c.412C>T
NM_001005735.1:c.1201C>T	NP_001005735.1:p.Gln401Ter
NM_001257387.1:c.409C>T	NP_001244316.1:p.Gln137Ter
NM_007194.3:c.1072C>T	NP_009125.1:p.Gln358Ter
NM_145862.2:c.1009-1051C>T	NP_665861.1:n.1009-1051C>T
XM_006724114.2:c.592C>T	XP_006724177.1:p.Gln198Ter
XM_006724116.2:c.529C>T	XP_006724179.2:p.Gln177Ter
XM_011529839.1:c.1231C>T	XP_011528141.1:p.Gln411Ter
XM_011529840.1:c.1168-1051C>T	XP_011528142.1:n.1168-1051C>T
XM_011529841.1:c.1000C>T	XP_011528143.1:p.Gln334Ter
XM_011529842.1:c.901C>T	XP_011528144.1:p.Gln301Ter
XM_011529843.1:c.871C>T	XP_011528145.1:p.Gln291Ter
XM_011529845.1:c.409C>T	XP_011528147.1:p.Gln137Ter
XR_937805.1:n.1231C>T
XR_937806.1:n.1163-1051C>T
NM_001349956.1:c.871C>T	NP_001336885.1:p.Gln291Ter
NM_007194.4:c.1072C>T MANE Select	NP_009125.1:p.Gln358Ter
XM_006724114.3:c.625C>T	XP_006724177.2:p.Gln209Ter
XM_011529839.2:c.1231C>T	XP_011528141.1:p.Gln411Ter
XM_011529840.3:c.1168-1051C>T	XP_011528142.1:n.1168-1051C>T
XM_011529842.2:c.901C>T	XP_011528144.1:p.Gln301Ter
XM_011529845.2:c.409C>T	XP_011528147.1:p.Gln137Ter
XM_017028560.1:c.1195C>T	XP_016884049.1:p.Gln399Ter
XM_017028561.2:c.409C>T	XP_016884050.1:p.Gln137Ter
XM_024452148.1:c.1102C>T	XP_024307916.1:p.Gln368Ter
XM_024452149.1:c.1039-1051C>T	XP_024307917.1:n.1039-1051C>T
XR_937805.2:n.1242C>T
XR_937806.2:n.1179-1051C>T
NM_001005735.2:c.1201C>T	NP_001005735.1:p.Gln401Ter
NM_001257387.2:c.409C>T	NP_001244316.1:p.Gln137Ter
NM_001349956.2:c.871C>T	NP_001336885.1:p.Gln291Ter