Canonical Allele Identifier: CA288296

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.28687925C>T , CM000684.2:g.28687925C>T	GRCh38
NC_000022.10:g.29083913C>T , CM000684.1:g.29083913C>T	GRCh37
NC_000022.9:g.27413913C>T	NCBI36
NG_008150.1:g.58910G>A
NG_008150.2:g.58942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*339G>A	ENSP00000518557.1:n.*339G>A
ENST00000402731.6:c.1403G>A	ENSP00000384835.2:p.Arg468His
ENST00000404276.6:c.1604G>A MANE Select	ENSP00000385747.1:p.Arg535His
ENST00000425190.7:c.941G>A	ENSP00000390244.2:p.Arg314His
ENST00000464581.6:c.944G>A	ENSP00000483777.2:p.Arg315His
ENST00000648295.1:n.1156G>A
ENST00000649563.1:c.941G>A	ENSP00000496928.1:p.Arg314His
ENST00000650281.1:c.1604G>A	ENSP00000497000.1:p.Arg535His
ENST00000328354.10:c.1604G>A	ENSP00000329178.6:p.Arg535His
ENST00000348295.7:c.1517G>A	ENSP00000329012.5:p.Arg506His
ENST00000382580.6:c.1733G>A	ENSP00000372023.2:p.Arg578His
ENST00000402731.5:c.1517G>A	ENSP00000384835.1:p.Arg506His
ENST00000403642.5:c.1331G>A	ENSP00000384919.1:p.Arg444His
ENST00000404276.5:c.1604G>A	ENSP00000385747.1:p.Arg535His
ENST00000405598.5:c.1604G>A	ENSP00000386087.1:p.Arg535His
ENST00000416671.5:c.*1094G>A	ENSP00000402225.1:n.*1094G>A
ENST00000417588.5:c.1513G>A	ENSP00000412901.1:n.1513G>A
ENST00000433728.5:c.1542G>A	ENSP00000404400.1:n.1542G>A
ENST00000434810.5:c.802G>A
ENST00000448511.5:c.1494G>A	ENSP00000404567.1:n.1494G>A
ENST00000456369.5:c.406G>A
ENST00000472807.1:n.338G>A
NM_001005735.1:c.1733G>A	NP_001005735.1:p.Arg578His
NM_001257387.1:c.941G>A	NP_001244316.1:p.Arg314His
NM_007194.3:c.1604G>A	NP_009125.1:p.Arg535His
NM_145862.2:c.1517G>A	NP_665861.1:p.Arg506His
XM_006724114.2:c.1124G>A	XP_006724177.1:p.Arg375His
XM_006724116.2:c.1061G>A	XP_006724179.2:p.Arg354His
XM_011529839.1:c.1763G>A	XP_011528141.1:p.Arg588His
XM_011529840.1:c.1676G>A	XP_011528142.1:p.Arg559His
XM_011529841.1:c.1532G>A	XP_011528143.1:p.Arg511His
XM_011529842.1:c.1433G>A	XP_011528144.1:p.Arg478His
XM_011529843.1:c.1403G>A	XP_011528145.1:p.Arg468His
XM_011529845.1:c.941G>A	XP_011528147.1:p.Arg314His
XR_937805.1:n.1763G>A
NM_001349956.1:c.1403G>A	NP_001336885.1:p.Arg468His
NM_007194.4:c.1604G>A MANE Select	NP_009125.1:p.Arg535His
XM_006724114.3:c.1157G>A	XP_006724177.2:p.Arg386His
XM_011529839.2:c.1763G>A	XP_011528141.1:p.Arg588His
XM_011529840.3:c.1676G>A	XP_011528142.1:p.Arg559His
XM_011529842.2:c.1433G>A	XP_011528144.1:p.Arg478His
XM_011529845.2:c.941G>A	XP_011528147.1:p.Arg314His
XM_017028560.1:c.1727G>A	XP_016884049.1:p.Arg576His
XM_017028561.2:c.941G>A	XP_016884050.1:p.Arg314His
XM_024452148.1:c.1634G>A	XP_024307916.1:p.Arg545His
XM_024452149.1:c.1547G>A	XP_024307917.1:p.Arg516His
XR_937805.2:n.1774G>A
NM_001005735.2:c.1733G>A	NP_001005735.1:p.Arg578His
NM_001257387.2:c.941G>A	NP_001244316.1:p.Arg314His
NM_001349956.2:c.1403G>A	NP_001336885.1:p.Arg468His