Canonical Allele Identifier: CA299074

Gene: CHEK2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696959C>T , CM000684.2:g.28696959C>T	GRCh38
NC_000022.10:g.29092947C>T , CM000684.1:g.29092947C>T	GRCh37
NC_000022.9:g.27422947C>T	NCBI36
NG_008150.1:g.49876G>A
NG_008150.2:g.49908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1717G>A	ENSP00000518557.1:n.1009-1717G>A
ENST00000402731.6:c.836G>A	ENSP00000384835.2:p.Arg279His
ENST00000404276.6:c.1037G>A MANE Select	ENSP00000385747.1:p.Arg346His
ENST00000425190.7:c.374G>A	ENSP00000390244.2:p.Arg125His
ENST00000464581.6:c.377G>A	ENSP00000483777.2:p.Arg126His
ENST00000648295.1:n.589G>A
ENST00000649563.1:c.374G>A	ENSP00000496928.1:p.Arg125His
ENST00000650281.1:c.1037G>A	ENSP00000497000.1:p.Arg346His
ENST00000328354.10:c.1037G>A	ENSP00000329178.6:p.Arg346His
ENST00000348295.7:c.1009-1086G>A	ENSP00000329012.5:n.1009-1086G>A
ENST00000382580.6:c.1166G>A	ENSP00000372023.2:p.Arg389His
ENST00000402731.5:c.1009-1086G>A	ENSP00000384835.1:n.1009-1086G>A
ENST00000403642.5:c.764G>A	ENSP00000384919.1:p.Arg255His
ENST00000404276.5:c.1037G>A	ENSP00000385747.1:p.Arg346His
ENST00000405598.5:c.1037G>A	ENSP00000386087.1:p.Arg346His
ENST00000416671.5:c.*527G>A	ENSP00000402225.1:n.*527G>A
ENST00000417588.5:c.946G>A	ENSP00000412901.1:n.946G>A
ENST00000433028.6:c.*762G>A	ENSP00000403659.1:n.*762G>A
ENST00000433728.5:c.975G>A	ENSP00000404400.1:n.975G>A
ENST00000434810.5:c.268G>A
ENST00000447421.5:c.836G>A	ENSP00000397478.2:p.Arg279His
ENST00000448511.5:c.927G>A	ENSP00000404567.1:n.927G>A
ENST00000456369.5:c.263+2879G>A
ENST00000464581.5:c.377G>A	ENSP00000483777.1:p.Arg126His
ENST00000491919.5:n.594G>A
NM_001005735.1:c.1166G>A	NP_001005735.1:p.Arg389His
NM_001257387.1:c.374G>A	NP_001244316.1:p.Arg125His
NM_007194.3:c.1037G>A	NP_009125.1:p.Arg346His
NM_145862.2:c.1009-1086G>A	NP_665861.1:n.1009-1086G>A
XM_006724114.2:c.557G>A	XP_006724177.1:p.Arg186His
XM_006724116.2:c.494G>A	XP_006724179.2:p.Arg165His
XM_011529839.1:c.1196G>A	XP_011528141.1:p.Arg399His
XM_011529840.1:c.1168-1086G>A	XP_011528142.1:n.1168-1086G>A
XM_011529841.1:c.965G>A	XP_011528143.1:p.Arg322His
XM_011529842.1:c.866G>A	XP_011528144.1:p.Arg289His
XM_011529843.1:c.836G>A	XP_011528145.1:p.Arg279His
XM_011529845.1:c.374G>A	XP_011528147.1:p.Arg125His
XR_937805.1:n.1196G>A
XR_937806.1:n.1163-1086G>A
NM_001349956.1:c.836G>A	NP_001336885.1:p.Arg279His
NM_007194.4:c.1037G>A MANE Select	NP_009125.1:p.Arg346His
XM_006724114.3:c.590G>A	XP_006724177.2:p.Arg197His
XM_011529839.2:c.1196G>A	XP_011528141.1:p.Arg399His
XM_011529840.3:c.1168-1086G>A	XP_011528142.1:n.1168-1086G>A
XM_011529842.2:c.866G>A	XP_011528144.1:p.Arg289His
XM_011529845.2:c.374G>A	XP_011528147.1:p.Arg125His
XM_017028560.1:c.1160G>A	XP_016884049.1:p.Arg387His
XM_017028561.2:c.374G>A	XP_016884050.1:p.Arg125His
XM_024452148.1:c.1067G>A	XP_024307916.1:p.Arg356His
XM_024452149.1:c.1039-1086G>A	XP_024307917.1:n.1039-1086G>A
XR_937805.2:n.1207G>A
XR_937806.2:n.1179-1086G>A
NM_001005735.2:c.1166G>A	NP_001005735.1:p.Arg389His
NM_001257387.2:c.374G>A	NP_001244316.1:p.Arg125His
NM_001349956.2:c.836G>A	NP_001336885.1:p.Arg279His