Canonical Allele Identifier: CA10588718

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695799G>T , CM000684.2:g.28695799G>T	GRCh38
NC_000022.10:g.29091787G>T , CM000684.1:g.29091787G>T	GRCh37
NC_000022.9:g.27421787G>T	NCBI36
NG_008150.1:g.51036C>A
NG_008150.2:g.51068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-557C>A	ENSP00000518557.1:n.1009-557C>A
ENST00000402731.6:c.969C>A	ENSP00000384835.2:p.Tyr323Ter
ENST00000404276.6:c.1170C>A MANE Select	ENSP00000385747.1:p.Tyr390Ter
ENST00000425190.7:c.507C>A	ENSP00000390244.2:p.Tyr169Ter
ENST00000464581.6:c.510C>A	ENSP00000483777.2:p.Tyr170Ter
ENST00000648295.1:n.722C>A
ENST00000649563.1:c.507C>A	ENSP00000496928.1:p.Tyr169Ter
ENST00000650281.1:c.1170C>A	ENSP00000497000.1:p.Tyr390Ter
ENST00000328354.10:c.1170C>A	ENSP00000329178.6:p.Tyr390Ter
ENST00000348295.7:c.1083C>A	ENSP00000329012.5:p.Tyr361Ter
ENST00000382580.6:c.1299C>A	ENSP00000372023.2:p.Tyr433Ter
ENST00000402731.5:c.1083C>A	ENSP00000384835.1:p.Tyr361Ter
ENST00000403642.5:c.897C>A	ENSP00000384919.1:p.Tyr299Ter
ENST00000404276.5:c.1170C>A	ENSP00000385747.1:p.Tyr390Ter
ENST00000405598.5:c.1170C>A	ENSP00000386087.1:p.Tyr390Ter
ENST00000416671.5:c.*660C>A	ENSP00000402225.1:n.*660C>A
ENST00000417588.5:c.1079C>A	ENSP00000412901.1:n.1079C>A
ENST00000433728.5:c.1108C>A	ENSP00000404400.1:n.1108C>A
ENST00000434810.5:c.401C>A
ENST00000448511.5:c.1060C>A	ENSP00000404567.1:n.1060C>A
ENST00000456369.5:c.263+4039C>A
NM_001005735.1:c.1299C>A	NP_001005735.1:p.Tyr433Ter
NM_001257387.1:c.507C>A	NP_001244316.1:p.Tyr169Ter
NM_007194.3:c.1170C>A	NP_009125.1:p.Tyr390Ter
NM_145862.2:c.1083C>A	NP_665861.1:p.Tyr361Ter
XM_006724114.2:c.690C>A	XP_006724177.1:p.Tyr230Ter
XM_006724116.2:c.627C>A	XP_006724179.2:p.Tyr209Ter
XM_011529839.1:c.1329C>A	XP_011528141.1:p.Tyr443Ter
XM_011529840.1:c.1242C>A	XP_011528142.1:p.Tyr414Ter
XM_011529841.1:c.1098C>A	XP_011528143.1:p.Tyr366Ter
XM_011529842.1:c.999C>A	XP_011528144.1:p.Tyr333Ter
XM_011529843.1:c.969C>A	XP_011528145.1:p.Tyr323Ter
XM_011529845.1:c.507C>A	XP_011528147.1:p.Tyr169Ter
XR_937805.1:n.1329C>A
XR_937806.1:n.1237C>A
NM_001349956.1:c.969C>A	NP_001336885.1:p.Tyr323Ter
NM_007194.4:c.1170C>A MANE Select	NP_009125.1:p.Tyr390Ter
XM_006724114.3:c.723C>A	XP_006724177.2:p.Tyr241Ter
XM_011529839.2:c.1329C>A	XP_011528141.1:p.Tyr443Ter
XM_011529840.3:c.1242C>A	XP_011528142.1:p.Tyr414Ter
XM_011529842.2:c.999C>A	XP_011528144.1:p.Tyr333Ter
XM_011529845.2:c.507C>A	XP_011528147.1:p.Tyr169Ter
XM_017028560.1:c.1293C>A	XP_016884049.1:p.Tyr431Ter
XM_017028561.2:c.507C>A	XP_016884050.1:p.Tyr169Ter
XM_024452148.1:c.1200C>A	XP_024307916.1:p.Tyr400Ter
XM_024452149.1:c.1113C>A	XP_024307917.1:p.Tyr371Ter
XR_937805.2:n.1340C>A
XR_937806.2:n.1253C>A
NM_001005735.2:c.1299C>A	NP_001005735.1:p.Tyr433Ter
NM_001257387.2:c.507C>A	NP_001244316.1:p.Tyr169Ter
NM_001349956.2:c.969C>A	NP_001336885.1:p.Tyr323Ter