Canonical Allele Identifier: CA513944675

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687969C>T , CM000684.2:g.28687969C>T	GRCh38
NC_000022.10:g.29083957C>T , CM000684.1:g.29083957C>T	GRCh37
NC_000022.9:g.27413957C>T	NCBI36
NG_008150.1:g.58866G>A
NG_008150.2:g.58898G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1560G>A MANE Select	NP_009125.1:p.Lys520=
ENST00000404276.6:c.1560G>A MANE Select	ENSP00000385747.1:p.Lys520=
NM_001005735.1:c.1689G>A	NP_001005735.1:p.Lys563=
NM_001005735.2:c.1689G>A	NP_001005735.1:p.Lys563=
NM_001257387.1:c.897G>A	NP_001244316.1:p.Lys299=
NM_001257387.2:c.897G>A	NP_001244316.1:p.Lys299=
NM_001349956.1:c.1359G>A	NP_001336885.1:p.Lys453=
NM_001349956.2:c.1359G>A	NP_001336885.1:p.Lys453=
NM_007194.3:c.1560G>A	NP_009125.1:p.Lys520=
NM_145862.2:c.1473G>A	NP_665861.1:p.Lys491=
ENST00000328354.10:c.1560G>A	ENSP00000329178.6:p.Lys520=
ENST00000348295.7:c.1473G>A	ENSP00000329012.5:p.Lys491=
ENST00000382580.6:c.1689G>A	ENSP00000372023.2:p.Lys563=
ENST00000402731.5:c.1473G>A	ENSP00000384835.1:p.Lys491=
ENST00000402731.6:c.1359G>A	ENSP00000384835.2:p.Lys453=
ENST00000403642.5:c.1287G>A	ENSP00000384919.1:p.Lys429=
ENST00000404276.5:c.1560G>A	ENSP00000385747.1:p.Lys520=
ENST00000405598.5:c.1560G>A	ENSP00000386087.1:p.Lys520=
ENST00000416671.5:c.*1050G>A	ENSP00000402225.1:n.*1050G>A
ENST00000417588.5:c.1469G>A	ENSP00000412901.1:n.1469G>A
ENST00000425190.7:c.897G>A	ENSP00000390244.2:p.Lys299=
ENST00000433728.5:c.1498G>A	ENSP00000404400.1:n.1498G>A
ENST00000434810.5:c.758G>A
ENST00000448511.5:c.1450G>A	ENSP00000404567.1:n.1450G>A
ENST00000456369.5:c.362G>A
ENST00000464581.6:c.900G>A	ENSP00000483777.2:p.Lys300=
ENST00000472807.1:n.294G>A
ENST00000648295.1:n.1112G>A
ENST00000649563.1:c.897G>A	ENSP00000496928.1:p.Lys299=
ENST00000650281.1:c.1560G>A	ENSP00000497000.1:p.Lys520=
ENST00000711048.1:c.*295G>A	ENSP00000518557.1:n.*295G>A
XM_006724114.2:c.1080G>A	XP_006724177.1:p.Lys360=
XM_006724114.3:c.1113G>A	XP_006724177.2:p.Lys371=
XM_006724116.2:c.1017G>A	XP_006724179.2:p.Lys339=
XM_011529839.1:c.1719G>A	XP_011528141.1:p.Lys573=
XM_011529839.2:c.1719G>A	XP_011528141.1:p.Lys573=
XM_011529840.1:c.1632G>A	XP_011528142.1:p.Lys544=
XM_011529840.3:c.1632G>A	XP_011528142.1:p.Lys544=
XM_011529841.1:c.1488G>A	XP_011528143.1:p.Lys496=
XM_011529842.1:c.1389G>A	XP_011528144.1:p.Lys463=
XM_011529842.2:c.1389G>A	XP_011528144.1:p.Lys463=
XM_011529843.1:c.1359G>A	XP_011528145.1:p.Lys453=
XM_011529845.1:c.897G>A	XP_011528147.1:p.Lys299=
XM_011529845.2:c.897G>A	XP_011528147.1:p.Lys299=
XM_017028560.1:c.1683G>A	XP_016884049.1:p.Lys561=
XM_017028561.2:c.897G>A	XP_016884050.1:p.Lys299=
XM_024452148.1:c.1590G>A	XP_024307916.1:p.Lys530=
XM_024452149.1:c.1503G>A	XP_024307917.1:p.Lys501=
XR_937805.1:n.1719G>A
XR_937805.2:n.1730G>A