Canonical Allele Identifier: CA349341

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711907A>G , CM000684.2:g.28711907A>G	GRCh38
NC_000022.10:g.29107895A>G , CM000684.1:g.29107895A>G	GRCh37
NC_000022.9:g.27437895A>G	NCBI36
NG_008150.1:g.34928T>C
NG_008150.2:g.34960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.701+2T>C	ENSP00000396903.2:n.701+2T>C
ENST00000711048.1:c.792+2T>C	ENSP00000518557.1:n.792+2T>C
ENST00000402731.6:c.591+2T>C	ENSP00000384835.2:n.591+2T>C
ENST00000404276.6:c.792+2T>C MANE Select	ENSP00000385747.1:n.792+2T>C
ENST00000425190.7:c.129+2T>C	ENSP00000390244.2:n.129+2T>C
ENST00000464581.6:c.132+2T>C	ENSP00000483777.2:n.132+2T>C
ENST00000648295.1:n.344+2T>C
ENST00000649563.1:c.129+2T>C	ENSP00000496928.1:n.129+2T>C
ENST00000650281.1:c.792+2T>C	ENSP00000497000.1:n.792+2T>C
ENST00000328354.10:c.792+2T>C	ENSP00000329178.6:n.792+2T>C
ENST00000348295.7:c.792+2T>C	ENSP00000329012.5:n.792+2T>C
ENST00000382580.6:c.921+2T>C	ENSP00000372023.2:n.921+2T>C
ENST00000402731.5:c.792+2T>C	ENSP00000384835.1:n.792+2T>C
ENST00000403642.5:c.519+2T>C	ENSP00000384919.1:n.519+2T>C
ENST00000404276.5:c.792+2T>C	ENSP00000385747.1:n.792+2T>C
ENST00000405598.5:c.792+2T>C	ENSP00000386087.1:n.792+2T>C
ENST00000416671.5:c.*282+2T>C	ENSP00000402225.1:n.*282+2T>C
ENST00000417588.5:c.701+2T>C	ENSP00000412901.1:n.701+2T>C
ENST00000425190.6:c.129+2T>C	ENSP00000390244.1:n.129+2T>C
ENST00000433028.6:c.*517+2T>C	ENSP00000403659.1:n.*517+2T>C
ENST00000433728.5:c.792+2T>C	ENSP00000404400.1:n.792+2T>C
ENST00000434810.5:c.23+2T>C
ENST00000439346.5:c.263+2T>C	ENSP00000396903.1:n.263+2T>C
ENST00000447421.5:c.591+2T>C	ENSP00000397478.2:n.591+2T>C
ENST00000448511.5:c.682+2T>C	ENSP00000404567.1:n.682+2T>C
ENST00000456369.5:c.47+2T>C
ENST00000464581.5:c.132+2T>C	ENSP00000483777.1:n.132+2T>C
ENST00000491919.5:n.349+2T>C
NM_001005735.1:c.921+2T>C	NP_001005735.1:n.921+2T>C
NM_001257387.1:c.129+2T>C	NP_001244316.1:n.129+2T>C
NM_007194.3:c.792+2T>C	NP_009125.1:n.792+2T>C
NM_145862.2:c.792+2T>C	NP_665861.1:n.792+2T>C
XM_006724114.2:c.312+2T>C	XP_006724177.1:n.312+2T>C
XM_006724116.2:c.249+2T>C	XP_006724179.2:n.249+2T>C
XM_011529839.1:c.951+2T>C	XP_011528141.1:n.951+2T>C
XM_011529840.1:c.951+2T>C	XP_011528142.1:n.951+2T>C
XM_011529841.1:c.720+2T>C	XP_011528143.1:n.720+2T>C
XM_011529842.1:c.621+2T>C	XP_011528144.1:n.621+2T>C
XM_011529843.1:c.591+2T>C	XP_011528145.1:n.591+2T>C
XM_011529844.1:c.951+2T>C	XP_011528146.1:n.951+2T>C
XM_011529845.1:c.129+2T>C	XP_011528147.1:n.129+2T>C
XR_937805.1:n.1013+2T>C
XR_937806.1:n.1008+2T>C
XR_937807.1:n.1008+2T>C
NM_001349956.1:c.591+2T>C	NP_001336885.1:n.591+2T>C
NM_007194.4:c.792+2T>C MANE Select	NP_009125.1:n.792+2T>C
XM_006724114.3:c.345+2T>C	XP_006724177.2:n.345+2T>C
XM_011529839.2:c.951+2T>C	XP_011528141.1:n.951+2T>C
XM_011529840.3:c.951+2T>C	XP_011528142.1:n.951+2T>C
XM_011529842.2:c.621+2T>C	XP_011528144.1:n.621+2T>C
XM_011529844.2:c.951+2T>C	XP_011528146.1:n.951+2T>C
XM_011529845.2:c.129+2T>C	XP_011528147.1:n.129+2T>C
XM_017028560.1:c.915+2T>C	XP_016884049.1:n.915+2T>C
XM_017028561.2:c.129+2T>C	XP_016884050.1:n.129+2T>C
XM_024452148.1:c.822+2T>C	XP_024307916.1:n.822+2T>C
XM_024452149.1:c.822+2T>C	XP_024307917.1:n.822+2T>C
XR_937805.2:n.1024+2T>C
XR_937806.2:n.1024+2T>C
XR_937807.2:n.1024+2T>C
NM_001005735.2:c.921+2T>C	NP_001005735.1:n.921+2T>C
NM_001257387.2:c.129+2T>C	NP_001244316.1:n.129+2T>C
NM_001349956.2:c.591+2T>C	NP_001336885.1:n.591+2T>C