Canonical Allele Identifier: CA411099300

Gene: CHEK2

Linked Data

• COSMIC: COSM5575452
• MyVariant Identifiers: chr22:g.29095828G>T (hg19) ; chr22:g.28699840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699840G>T , CM000684.2:g.28699840G>T	GRCh38
NC_000022.10:g.29095828G>T , CM000684.1:g.29095828G>T	GRCh37
NC_000022.9:g.27425828G>T	NCBI36
NG_008150.1:g.46995C>A
NG_008150.2:g.47027C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.915C>A	ENSP00000396903.2:n.915C>A
ENST00000711048.1:c.1006C>A	ENSP00000518557.1:p.Gln336Lys
ENST00000402731.6:c.805C>A	ENSP00000384835.2:p.Gln269Lys
ENST00000404276.6:c.1006C>A MANE Select	ENSP00000385747.1:p.Gln336Lys
ENST00000425190.7:c.343C>A	ENSP00000390244.2:p.Gln115Lys
ENST00000464581.6:c.346C>A	ENSP00000483777.2:p.Gln116Lys
ENST00000648295.1:n.558C>A
ENST00000649563.1:c.343C>A	ENSP00000496928.1:p.Gln115Lys
ENST00000650281.1:c.1006C>A	ENSP00000497000.1:p.Gln336Lys
ENST00000328354.10:c.1006C>A	ENSP00000329178.6:p.Gln336Lys
ENST00000348295.7:c.1006C>A	ENSP00000329012.5:p.Gln336Lys
ENST00000382580.6:c.1135C>A	ENSP00000372023.2:p.Gln379Lys
ENST00000402731.5:c.1006C>A	ENSP00000384835.1:p.Gln336Lys
ENST00000403642.5:c.733C>A	ENSP00000384919.1:p.Gln245Lys
ENST00000404276.5:c.1006C>A	ENSP00000385747.1:p.Gln336Lys
ENST00000405598.5:c.1006C>A	ENSP00000386087.1:p.Gln336Lys
ENST00000416671.5:c.*496C>A	ENSP00000402225.1:n.*496C>A
ENST00000417588.5:c.915C>A	ENSP00000412901.1:n.915C>A
ENST00000425190.6:c.343C>A	ENSP00000390244.1:p.Gln115Lys
ENST00000433028.6:c.*731C>A	ENSP00000403659.1:n.*731C>A
ENST00000433728.5:c.944C>A	ENSP00000404400.1:n.944C>A
ENST00000434810.5:c.237C>A
ENST00000439346.5:c.477C>A	ENSP00000396903.1:n.477C>A
ENST00000447421.5:c.805C>A	ENSP00000397478.2:p.Gln269Lys
ENST00000448511.5:c.896C>A	ENSP00000404567.1:n.896C>A
ENST00000456369.5:c.261C>A
ENST00000464581.5:c.346C>A	ENSP00000483777.1:p.Gln116Lys
ENST00000491919.5:n.563C>A
NM_001005735.1:c.1135C>A	NP_001005735.1:p.Gln379Lys
NM_001257387.1:c.343C>A	NP_001244316.1:p.Gln115Lys
NM_007194.3:c.1006C>A	NP_009125.1:p.Gln336Lys
NM_145862.2:c.1006C>A	NP_665861.1:p.Gln336Lys
XM_006724114.2:c.526C>A	XP_006724177.1:p.Gln176Lys
XM_006724116.2:c.463C>A	XP_006724179.2:p.Gln155Lys
XM_011529839.1:c.1165C>A	XP_011528141.1:p.Gln389Lys
XM_011529840.1:c.1165C>A	XP_011528142.1:p.Gln389Lys
XM_011529841.1:c.934C>A	XP_011528143.1:p.Gln312Lys
XM_011529842.1:c.835C>A	XP_011528144.1:p.Gln279Lys
XM_011529843.1:c.805C>A	XP_011528145.1:p.Gln269Lys
XM_011529844.1:c.1165C>A	XP_011528146.1:p.Gln389Lys
XM_011529845.1:c.343C>A	XP_011528147.1:p.Gln115Lys
XR_937805.1:n.1165C>A
XR_937806.1:n.1160C>A
XR_937807.1:n.1160C>A
NM_001349956.1:c.805C>A	NP_001336885.1:p.Gln269Lys
NM_007194.4:c.1006C>A MANE Select	NP_009125.1:p.Gln336Lys
XM_006724114.3:c.559C>A	XP_006724177.2:p.Gln187Lys
XM_011529839.2:c.1165C>A	XP_011528141.1:p.Gln389Lys
XM_011529840.3:c.1165C>A	XP_011528142.1:p.Gln389Lys
XM_011529842.2:c.835C>A	XP_011528144.1:p.Gln279Lys
XM_011529844.2:c.1165C>A	XP_011528146.1:p.Gln389Lys
XM_011529845.2:c.343C>A	XP_011528147.1:p.Gln115Lys
XM_017028560.1:c.1129C>A	XP_016884049.1:p.Gln377Lys
XM_017028561.2:c.343C>A	XP_016884050.1:p.Gln115Lys
XM_024452148.1:c.1036C>A	XP_024307916.1:p.Gln346Lys
XM_024452149.1:c.1036C>A	XP_024307917.1:p.Gln346Lys
XR_937805.2:n.1176C>A
XR_937806.2:n.1176C>A
XR_937807.2:n.1176C>A
NM_001005735.2:c.1135C>A	NP_001005735.1:p.Gln379Lys
NM_001257387.2:c.343C>A	NP_001244316.1:p.Gln115Lys
NM_001349956.2:c.805C>A	NP_001336885.1:p.Gln269Lys