Canonical Allele Identifier: CA2400237497

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694067T= , CM000684.2:g.28694067T=	GRCh38
NC_000022.10:g.29090055T= , CM000684.1:g.29090055T=	GRCh37
NC_000022.9:g.27420055T=	NCBI36
NG_008150.1:g.52768A=
NG_008150.2:g.52800A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*161A=	ENSP00000518557.1:n.*161A=
ENST00000402731.6:c.1225A=	ENSP00000384835.2:p.Thr409=
ENST00000404276.6:c.1426A= MANE Select	ENSP00000385747.1:p.Thr476=
ENST00000425190.7:c.763A=	ENSP00000390244.2:p.Thr255=
ENST00000464581.6:c.766A=	ENSP00000483777.2:p.Thr256=
ENST00000648295.1:n.978A=
ENST00000649563.1:c.763A=	ENSP00000496928.1:p.Thr255=
ENST00000650281.1:c.1426A=	ENSP00000497000.1:p.Thr476=
ENST00000328354.10:c.1426A=	ENSP00000329178.6:p.Thr476=
ENST00000348295.7:c.1339A=	ENSP00000329012.5:p.Thr447=
ENST00000382580.6:c.1555A=	ENSP00000372023.2:p.Thr519=
ENST00000402731.5:c.1339A=	ENSP00000384835.1:p.Thr447=
ENST00000403642.5:c.1153A=	ENSP00000384919.1:p.Thr385=
ENST00000404276.5:c.1426A=	ENSP00000385747.1:p.Thr476=
ENST00000405598.5:c.1426A=	ENSP00000386087.1:p.Thr476=
ENST00000416671.5:c.*916A=	ENSP00000402225.1:n.*916A=
ENST00000417588.5:c.1335A=	ENSP00000412901.1:n.1335A=
ENST00000433728.5:c.1364A=	ENSP00000404400.1:n.1364A=
ENST00000434810.5:c.624A=
ENST00000448511.5:c.1316A=	ENSP00000404567.1:n.1316A=
ENST00000456369.5:c.264-4852A=
NM_001005735.1:c.1555A=	NP_001005735.1:p.Thr519=
NM_001257387.1:c.763A=	NP_001244316.1:p.Thr255=
NM_007194.3:c.1426A=	NP_009125.1:p.Thr476=
NM_145862.2:c.1339A=	NP_665861.1:p.Thr447=
XM_006724114.2:c.946A=	XP_006724177.1:p.Thr316=
XM_006724116.2:c.883A=	XP_006724179.2:p.Thr295=
XM_011529839.1:c.1585A=	XP_011528141.1:p.Thr529=
XM_011529840.1:c.1498A=	XP_011528142.1:p.Thr500=
XM_011529841.1:c.1354A=	XP_011528143.1:p.Thr452=
XM_011529842.1:c.1255A=	XP_011528144.1:p.Thr419=
XM_011529843.1:c.1225A=	XP_011528145.1:p.Thr409=
XM_011529845.1:c.763A=	XP_011528147.1:p.Thr255=
XR_937805.1:n.1585A=
NM_001349956.1:c.1225A=	NP_001336885.1:p.Thr409=
NM_007194.4:c.1426A= MANE Select	NP_009125.1:p.Thr476=
XM_006724114.3:c.979A=	XP_006724177.2:p.Thr327=
XM_011529839.2:c.1585A=	XP_011528141.1:p.Thr529=
XM_011529840.3:c.1498A=	XP_011528142.1:p.Thr500=
XM_011529842.2:c.1255A=	XP_011528144.1:p.Thr419=
XM_011529845.2:c.763A=	XP_011528147.1:p.Thr255=
XM_017028560.1:c.1549A=	XP_016884049.1:p.Thr517=
XM_017028561.2:c.763A=	XP_016884050.1:p.Thr255=
XM_024452148.1:c.1456A=	XP_024307916.1:p.Thr486=
XM_024452149.1:c.1369A=	XP_024307917.1:p.Thr457=
XR_937805.2:n.1596A=
NM_001005735.2:c.1555A=	NP_001005735.1:p.Thr519=
NM_001257387.2:c.763A=	NP_001244316.1:p.Thr255=
NM_001349956.2:c.1225A=	NP_001336885.1:p.Thr409=