Canonical Allele Identifier: CA411100884

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28703505A>T , CM000684.2:g.28703505A>T	GRCh38
NC_000022.10:g.29099493A>T , CM000684.1:g.29099493A>T	GRCh37
NC_000022.9:g.27429493A>T	NCBI36
NG_008150.1:g.43330T>A
NG_008150.2:g.43362T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.817T>A	ENSP00000396903.2:n.817T>A
ENST00000711048.1:c.908T>A	ENSP00000518557.1:p.Leu303Ter
ENST00000402731.6:c.707T>A	ENSP00000384835.2:p.Leu236Ter
ENST00000404276.6:c.908T>A MANE Select	ENSP00000385747.1:p.Leu303Ter
ENST00000425190.7:c.245T>A	ENSP00000390244.2:p.Leu82Ter
ENST00000464581.6:c.248T>A	ENSP00000483777.2:p.Leu83Ter
ENST00000648295.1:n.460T>A
ENST00000649563.1:c.245T>A	ENSP00000496928.1:p.Leu82Ter
ENST00000650281.1:c.908T>A	ENSP00000497000.1:p.Leu303Ter
ENST00000328354.10:c.908T>A	ENSP00000329178.6:p.Leu303Ter
ENST00000348295.7:c.908T>A	ENSP00000329012.5:p.Leu303Ter
ENST00000382580.6:c.1037T>A	ENSP00000372023.2:p.Leu346Ter
ENST00000402731.5:c.908T>A	ENSP00000384835.1:p.Leu303Ter
ENST00000403642.5:c.635T>A	ENSP00000384919.1:p.Leu212Ter
ENST00000404276.5:c.908T>A	ENSP00000385747.1:p.Leu303Ter
ENST00000405598.5:c.908T>A	ENSP00000386087.1:p.Leu303Ter
ENST00000416671.5:c.*398T>A	ENSP00000402225.1:n.*398T>A
ENST00000417588.5:c.817T>A	ENSP00000412901.1:n.817T>A
ENST00000425190.6:c.245T>A	ENSP00000390244.1:p.Leu82Ter
ENST00000433028.6:c.*633T>A	ENSP00000403659.1:n.*633T>A
ENST00000433728.5:c.847-3568T>A	ENSP00000404400.1:n.847-3568T>A
ENST00000434810.5:c.139T>A
ENST00000439346.5:c.379T>A	ENSP00000396903.1:n.379T>A
ENST00000447421.5:c.707T>A	ENSP00000397478.2:p.Leu236Ter
ENST00000448511.5:c.798T>A	ENSP00000404567.1:n.798T>A
ENST00000456369.5:c.163T>A
ENST00000464581.5:c.248T>A	ENSP00000483777.1:p.Leu83Ter
ENST00000491919.5:n.465T>A
NM_001005735.1:c.1037T>A	NP_001005735.1:p.Leu346Ter
NM_001257387.1:c.245T>A	NP_001244316.1:p.Leu82Ter
NM_007194.3:c.908T>A	NP_009125.1:p.Leu303Ter
NM_145862.2:c.908T>A	NP_665861.1:p.Leu303Ter
XM_006724114.2:c.428T>A	XP_006724177.1:p.Leu143Ter
XM_006724116.2:c.365T>A	XP_006724179.2:p.Leu122Ter
XM_011529839.1:c.1067T>A	XP_011528141.1:p.Leu356Ter
XM_011529840.1:c.1067T>A	XP_011528142.1:p.Leu356Ter
XM_011529841.1:c.836T>A	XP_011528143.1:p.Leu279Ter
XM_011529842.1:c.737T>A	XP_011528144.1:p.Leu246Ter
XM_011529843.1:c.707T>A	XP_011528145.1:p.Leu236Ter
XM_011529844.1:c.1067T>A	XP_011528146.1:p.Leu356Ter
XM_011529845.1:c.245T>A	XP_011528147.1:p.Leu82Ter
XR_937805.1:n.1068-3568T>A
XR_937806.1:n.1063-3568T>A
XR_937807.1:n.1063-3568T>A
NM_001349956.1:c.707T>A	NP_001336885.1:p.Leu236Ter
NM_007194.4:c.908T>A MANE Select	NP_009125.1:p.Leu303Ter
XM_006724114.3:c.461T>A	XP_006724177.2:p.Leu154Ter
XM_011529839.2:c.1067T>A	XP_011528141.1:p.Leu356Ter
XM_011529840.3:c.1067T>A	XP_011528142.1:p.Leu356Ter
XM_011529842.2:c.737T>A	XP_011528144.1:p.Leu246Ter
XM_011529844.2:c.1067T>A	XP_011528146.1:p.Leu356Ter
XM_011529845.2:c.245T>A	XP_011528147.1:p.Leu82Ter
XM_017028560.1:c.1031T>A	XP_016884049.1:p.Leu344Ter
XM_017028561.2:c.245T>A	XP_016884050.1:p.Leu82Ter
XM_024452148.1:c.938T>A	XP_024307916.1:p.Leu313Ter
XM_024452149.1:c.938T>A	XP_024307917.1:p.Leu313Ter
XR_937805.2:n.1079-3568T>A
XR_937806.2:n.1079-3568T>A
XR_937807.2:n.1079-3568T>A
NM_001005735.2:c.1037T>A	NP_001005735.1:p.Leu346Ter
NM_001257387.2:c.245T>A	NP_001244316.1:p.Leu82Ter
NM_001349956.2:c.707T>A	NP_001336885.1:p.Leu236Ter