Canonical Allele Identifier: CA339590

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687943C>T , CM000684.2:g.28687943C>T	GRCh38
NC_000022.10:g.29083931C>T , CM000684.1:g.29083931C>T	GRCh37
NC_000022.9:g.27413931C>T	NCBI36
NG_008150.1:g.58892G>A
NG_008150.2:g.58924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*321G>A	ENSP00000518557.1:n.*321G>A
ENST00000402731.6:c.1385G>A	ENSP00000384835.2:p.Gly462Asp
ENST00000404276.6:c.1586G>A MANE Select	ENSP00000385747.1:p.Gly529Asp
ENST00000425190.7:c.923G>A	ENSP00000390244.2:p.Gly308Asp
ENST00000464581.6:c.926G>A	ENSP00000483777.2:p.Gly309Asp
ENST00000648295.1:n.1138G>A
ENST00000649563.1:c.923G>A	ENSP00000496928.1:p.Gly308Asp
ENST00000650281.1:c.1586G>A	ENSP00000497000.1:p.Gly529Asp
ENST00000328354.10:c.1586G>A	ENSP00000329178.6:p.Gly529Asp
ENST00000348295.7:c.1499G>A	ENSP00000329012.5:p.Gly500Asp
ENST00000382580.6:c.1715G>A	ENSP00000372023.2:p.Gly572Asp
ENST00000402731.5:c.1499G>A	ENSP00000384835.1:p.Gly500Asp
ENST00000403642.5:c.1313G>A	ENSP00000384919.1:p.Gly438Asp
ENST00000404276.5:c.1586G>A	ENSP00000385747.1:p.Gly529Asp
ENST00000405598.5:c.1586G>A	ENSP00000386087.1:p.Gly529Asp
ENST00000416671.5:c.*1076G>A	ENSP00000402225.1:n.*1076G>A
ENST00000417588.5:c.1495G>A	ENSP00000412901.1:n.1495G>A
ENST00000433728.5:c.1524G>A	ENSP00000404400.1:n.1524G>A
ENST00000434810.5:c.784G>A
ENST00000448511.5:c.1476G>A	ENSP00000404567.1:n.1476G>A
ENST00000456369.5:c.388G>A
ENST00000472807.1:n.320G>A
NM_001005735.1:c.1715G>A	NP_001005735.1:p.Gly572Asp
NM_001257387.1:c.923G>A	NP_001244316.1:p.Gly308Asp
NM_007194.3:c.1586G>A	NP_009125.1:p.Gly529Asp
NM_145862.2:c.1499G>A	NP_665861.1:p.Gly500Asp
XM_006724114.2:c.1106G>A	XP_006724177.1:p.Gly369Asp
XM_006724116.2:c.1043G>A	XP_006724179.2:p.Gly348Asp
XM_011529839.1:c.1745G>A	XP_011528141.1:p.Gly582Asp
XM_011529840.1:c.1658G>A	XP_011528142.1:p.Gly553Asp
XM_011529841.1:c.1514G>A	XP_011528143.1:p.Gly505Asp
XM_011529842.1:c.1415G>A	XP_011528144.1:p.Gly472Asp
XM_011529843.1:c.1385G>A	XP_011528145.1:p.Gly462Asp
XM_011529845.1:c.923G>A	XP_011528147.1:p.Gly308Asp
XR_937805.1:n.1745G>A
NM_001349956.1:c.1385G>A	NP_001336885.1:p.Gly462Asp
NM_007194.4:c.1586G>A MANE Select	NP_009125.1:p.Gly529Asp
XM_006724114.3:c.1139G>A	XP_006724177.2:p.Gly380Asp
XM_011529839.2:c.1745G>A	XP_011528141.1:p.Gly582Asp
XM_011529840.3:c.1658G>A	XP_011528142.1:p.Gly553Asp
XM_011529842.2:c.1415G>A	XP_011528144.1:p.Gly472Asp
XM_011529845.2:c.923G>A	XP_011528147.1:p.Gly308Asp
XM_017028560.1:c.1709G>A	XP_016884049.1:p.Gly570Asp
XM_017028561.2:c.923G>A	XP_016884050.1:p.Gly308Asp
XM_024452148.1:c.1616G>A	XP_024307916.1:p.Gly539Asp
XM_024452149.1:c.1529G>A	XP_024307917.1:p.Gly510Asp
XR_937805.2:n.1756G>A
NM_001005735.2:c.1715G>A	NP_001005735.1:p.Gly572Asp
NM_001257387.2:c.923G>A	NP_001244316.1:p.Gly308Asp
NM_001349956.2:c.1385G>A	NP_001336885.1:p.Gly462Asp