Canonical Allele Identifier: CA2839240607

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28704630G>A , CM000684.2:g.28704630G>A	GRCh38
NC_000022.10:g.29100618G>A , CM000684.1:g.29100618G>A	GRCh37
NC_000022.9:g.27430618G>A	NCBI36
NG_008150.1:g.42205C>T
NG_008150.2:g.42237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.756-1064C>T	ENSP00000396903.2:n.756-1064C>T
ENST00000711048.1:c.847-1064C>T	ENSP00000518557.1:n.847-1064C>T
ENST00000402731.6:c.646-1064C>T	ENSP00000384835.2:n.646-1064C>T
ENST00000404276.6:c.847-1064C>T MANE Select	ENSP00000385747.1:n.847-1064C>T
ENST00000425190.7:c.184-1064C>T	ENSP00000390244.2:n.184-1064C>T
ENST00000464581.6:c.187-1064C>T	ENSP00000483777.2:n.187-1064C>T
ENST00000648295.1:n.399-1064C>T
ENST00000649563.1:c.184-1064C>T	ENSP00000496928.1:n.184-1064C>T
ENST00000650281.1:c.847-1064C>T	ENSP00000497000.1:n.847-1064C>T
ENST00000328354.10:c.847-1064C>T	ENSP00000329178.6:n.847-1064C>T
ENST00000348295.7:c.847-1064C>T	ENSP00000329012.5:n.847-1064C>T
ENST00000382580.6:c.976-1064C>T	ENSP00000372023.2:n.976-1064C>T
ENST00000402731.5:c.847-1064C>T	ENSP00000384835.1:n.847-1064C>T
ENST00000403642.5:c.574-1064C>T	ENSP00000384919.1:n.574-1064C>T
ENST00000404276.5:c.847-1064C>T	ENSP00000385747.1:n.847-1064C>T
ENST00000405598.5:c.847-1064C>T	ENSP00000386087.1:n.847-1064C>T
ENST00000416671.5:c.*337-1064C>T	ENSP00000402225.1:n.*337-1064C>T
ENST00000417588.5:c.756-1064C>T	ENSP00000412901.1:n.756-1064C>T
ENST00000425190.6:c.184-1064C>T	ENSP00000390244.1:n.184-1064C>T
ENST00000433028.6:c.*572-1064C>T	ENSP00000403659.1:n.*572-1064C>T
ENST00000433728.5:c.847-4693C>T	ENSP00000404400.1:n.847-4693C>T
ENST00000434810.5:c.78-1064C>T
ENST00000439346.5:c.318-1064C>T	ENSP00000396903.1:n.318-1064C>T
ENST00000447421.5:c.646-1064C>T	ENSP00000397478.2:n.646-1064C>T
ENST00000448511.5:c.737-1064C>T	ENSP00000404567.1:n.737-1064C>T
ENST00000456369.5:c.102-1064C>T
ENST00000464581.5:c.187-1064C>T	ENSP00000483777.1:n.187-1064C>T
ENST00000491919.5:n.404-1064C>T
NM_001005735.1:c.976-1064C>T	NP_001005735.1:n.976-1064C>T
NM_001257387.1:c.184-1064C>T	NP_001244316.1:n.184-1064C>T
NM_007194.3:c.847-1064C>T	NP_009125.1:n.847-1064C>T
NM_145862.2:c.847-1064C>T	NP_665861.1:n.847-1064C>T
XM_006724114.2:c.367-1064C>T	XP_006724177.1:n.367-1064C>T
XM_006724116.2:c.304-1064C>T	XP_006724179.2:n.304-1064C>T
XM_011529839.1:c.1006-1064C>T	XP_011528141.1:n.1006-1064C>T
XM_011529840.1:c.1006-1064C>T	XP_011528142.1:n.1006-1064C>T
XM_011529841.1:c.775-1064C>T	XP_011528143.1:n.775-1064C>T
XM_011529842.1:c.676-1064C>T	XP_011528144.1:n.676-1064C>T
XM_011529843.1:c.646-1064C>T	XP_011528145.1:n.646-1064C>T
XM_011529844.1:c.1006-1064C>T	XP_011528146.1:n.1006-1064C>T
XM_011529845.1:c.184-1064C>T	XP_011528147.1:n.184-1064C>T
XR_937805.1:n.1068-4693C>T
XR_937806.1:n.1063-4693C>T
XR_937807.1:n.1063-4693C>T
NM_001349956.1:c.646-1064C>T	NP_001336885.1:n.646-1064C>T
NM_007194.4:c.847-1064C>T MANE Select	NP_009125.1:n.847-1064C>T
XM_006724114.3:c.400-1064C>T	XP_006724177.2:n.400-1064C>T
XM_011529839.2:c.1006-1064C>T	XP_011528141.1:n.1006-1064C>T
XM_011529840.3:c.1006-1064C>T	XP_011528142.1:n.1006-1064C>T
XM_011529842.2:c.676-1064C>T	XP_011528144.1:n.676-1064C>T
XM_011529844.2:c.1006-1064C>T	XP_011528146.1:n.1006-1064C>T
XM_011529845.2:c.184-1064C>T	XP_011528147.1:n.184-1064C>T
XM_017028560.1:c.970-1064C>T	XP_016884049.1:n.970-1064C>T
XM_017028561.2:c.184-1064C>T	XP_016884050.1:n.184-1064C>T
XM_024452148.1:c.877-1064C>T	XP_024307916.1:n.877-1064C>T
XM_024452149.1:c.877-1064C>T	XP_024307917.1:n.877-1064C>T
XR_937805.2:n.1079-4693C>T
XR_937806.2:n.1079-4693C>T
XR_937807.2:n.1079-4693C>T
NM_001005735.2:c.976-1064C>T	NP_001005735.1:n.976-1064C>T
NM_001257387.2:c.184-1064C>T	NP_001244316.1:n.184-1064C>T
NM_001349956.2:c.646-1064C>T	NP_001336885.1:n.646-1064C>T