Canonical Allele Identifier: CA2400237496

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694066G= , CM000684.2:g.28694066G=	GRCh38
NC_000022.10:g.29090054G= , CM000684.1:g.29090054G=	GRCh37
NC_000022.9:g.27420054G=	NCBI36
NG_008150.1:g.52769C=
NG_008150.2:g.52801C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*162C=	ENSP00000518557.1:n.*162C=
ENST00000402731.6:c.1226C=	ENSP00000384835.2:p.Thr409=
ENST00000404276.6:c.1427C= MANE Select	ENSP00000385747.1:p.Thr476=
ENST00000425190.7:c.764C=	ENSP00000390244.2:p.Thr255=
ENST00000464581.6:c.767C=	ENSP00000483777.2:p.Thr256=
ENST00000648295.1:n.979C=
ENST00000649563.1:c.764C=	ENSP00000496928.1:p.Thr255=
ENST00000650281.1:c.1427C=	ENSP00000497000.1:p.Thr476=
ENST00000328354.10:c.1427C=	ENSP00000329178.6:p.Thr476=
ENST00000348295.7:c.1340C=	ENSP00000329012.5:p.Thr447=
ENST00000382580.6:c.1556C=	ENSP00000372023.2:p.Thr519=
ENST00000402731.5:c.1340C=	ENSP00000384835.1:p.Thr447=
ENST00000403642.5:c.1154C=	ENSP00000384919.1:p.Thr385=
ENST00000404276.5:c.1427C=	ENSP00000385747.1:p.Thr476=
ENST00000405598.5:c.1427C=	ENSP00000386087.1:p.Thr476=
ENST00000416671.5:c.*917C=	ENSP00000402225.1:n.*917C=
ENST00000417588.5:c.1336C=	ENSP00000412901.1:n.1336C=
ENST00000433728.5:c.1365C=	ENSP00000404400.1:n.1365C=
ENST00000434810.5:c.625C=
ENST00000448511.5:c.1317C=	ENSP00000404567.1:n.1317C=
ENST00000456369.5:c.264-4851C=
NM_001005735.1:c.1556C=	NP_001005735.1:p.Thr519=
NM_001257387.1:c.764C=	NP_001244316.1:p.Thr255=
NM_007194.3:c.1427C=	NP_009125.1:p.Thr476=
NM_145862.2:c.1340C=	NP_665861.1:p.Thr447=
XM_006724114.2:c.947C=	XP_006724177.1:p.Thr316=
XM_006724116.2:c.884C=	XP_006724179.2:p.Thr295=
XM_011529839.1:c.1586C=	XP_011528141.1:p.Thr529=
XM_011529840.1:c.1499C=	XP_011528142.1:p.Thr500=
XM_011529841.1:c.1355C=	XP_011528143.1:p.Thr452=
XM_011529842.1:c.1256C=	XP_011528144.1:p.Thr419=
XM_011529843.1:c.1226C=	XP_011528145.1:p.Thr409=
XM_011529845.1:c.764C=	XP_011528147.1:p.Thr255=
XR_937805.1:n.1586C=
NM_001349956.1:c.1226C=	NP_001336885.1:p.Thr409=
NM_007194.4:c.1427C= MANE Select	NP_009125.1:p.Thr476=
XM_006724114.3:c.980C=	XP_006724177.2:p.Thr327=
XM_011529839.2:c.1586C=	XP_011528141.1:p.Thr529=
XM_011529840.3:c.1499C=	XP_011528142.1:p.Thr500=
XM_011529842.2:c.1256C=	XP_011528144.1:p.Thr419=
XM_011529845.2:c.764C=	XP_011528147.1:p.Thr255=
XM_017028560.1:c.1550C=	XP_016884049.1:p.Thr517=
XM_017028561.2:c.764C=	XP_016884050.1:p.Thr255=
XM_024452148.1:c.1457C=	XP_024307916.1:p.Thr486=
XM_024452149.1:c.1370C=	XP_024307917.1:p.Thr457=
XR_937805.2:n.1597C=
NM_001005735.2:c.1556C=	NP_001005735.1:p.Thr519=
NM_001257387.2:c.764C=	NP_001244316.1:p.Thr255=
NM_001349956.2:c.1226C=	NP_001336885.1:p.Thr409=