Canonical Allele Identifier: CA10167684

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695233C>A , CM000684.2:g.28695233C>A	GRCh38
NC_000022.10:g.29091221C>A , CM000684.1:g.29091221C>A	GRCh37
NC_000022.9:g.27421221C>A	NCBI36
NG_008150.1:g.51602G>T
NG_008150.2:g.51634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*4G>T	ENSP00000518557.1:n.*4G>T
ENST00000402731.6:c.1068G>T	ENSP00000384835.2:p.Gly356=
ENST00000404276.6:c.1269G>T MANE Select	ENSP00000385747.1:p.Gly423=
ENST00000425190.7:c.606G>T	ENSP00000390244.2:p.Gly202=
ENST00000464581.6:c.609G>T	ENSP00000483777.2:p.Gly203=
ENST00000648295.1:n.821G>T
ENST00000649563.1:c.606G>T	ENSP00000496928.1:p.Gly202=
ENST00000650281.1:c.1269G>T	ENSP00000497000.1:p.Gly423=
ENST00000328354.10:c.1269G>T	ENSP00000329178.6:p.Gly423=
ENST00000348295.7:c.1182G>T	ENSP00000329012.5:p.Gly394=
ENST00000382580.6:c.1398G>T	ENSP00000372023.2:p.Gly466=
ENST00000402731.5:c.1182G>T	ENSP00000384835.1:p.Gly394=
ENST00000403642.5:c.996G>T	ENSP00000384919.1:p.Gly332=
ENST00000404276.5:c.1269G>T	ENSP00000385747.1:p.Gly423=
ENST00000405598.5:c.1269G>T	ENSP00000386087.1:p.Gly423=
ENST00000416671.5:c.*759G>T	ENSP00000402225.1:n.*759G>T
ENST00000417588.5:c.1178G>T	ENSP00000412901.1:n.1178G>T
ENST00000433728.5:c.1207G>T	ENSP00000404400.1:n.1207G>T
ENST00000434810.5:c.491-24G>T
ENST00000448511.5:c.1159G>T	ENSP00000404567.1:n.1159G>T
ENST00000456369.5:c.263+4605G>T
NM_001005735.1:c.1398G>T	NP_001005735.1:p.Gly466=
NM_001257387.1:c.606G>T	NP_001244316.1:p.Gly202=
NM_007194.3:c.1269G>T	NP_009125.1:p.Gly423=
NM_145862.2:c.1182G>T	NP_665861.1:p.Gly394=
XM_006724114.2:c.789G>T	XP_006724177.1:p.Gly263=
XM_006724116.2:c.726G>T	XP_006724179.2:p.Gly242=
XM_011529839.1:c.1428G>T	XP_011528141.1:p.Gly476=
XM_011529840.1:c.1341G>T	XP_011528142.1:p.Gly447=
XM_011529841.1:c.1197G>T	XP_011528143.1:p.Gly399=
XM_011529842.1:c.1098G>T	XP_011528144.1:p.Gly366=
XM_011529843.1:c.1068G>T	XP_011528145.1:p.Gly356=
XM_011529845.1:c.606G>T	XP_011528147.1:p.Gly202=
XR_937805.1:n.1428G>T
NM_001349956.1:c.1068G>T	NP_001336885.1:p.Gly356=
NM_007194.4:c.1269G>T MANE Select	NP_009125.1:p.Gly423=
XM_006724114.3:c.822G>T	XP_006724177.2:p.Gly274=
XM_011529839.2:c.1428G>T	XP_011528141.1:p.Gly476=
XM_011529840.3:c.1341G>T	XP_011528142.1:p.Gly447=
XM_011529842.2:c.1098G>T	XP_011528144.1:p.Gly366=
XM_011529845.2:c.606G>T	XP_011528147.1:p.Gly202=
XM_017028560.1:c.1392G>T	XP_016884049.1:p.Gly464=
XM_017028561.2:c.606G>T	XP_016884050.1:p.Gly202=
XM_024452148.1:c.1299G>T	XP_024307916.1:p.Gly433=
XM_024452149.1:c.1212G>T	XP_024307917.1:p.Gly404=
XR_937805.2:n.1439G>T
NM_001005735.2:c.1398G>T	NP_001005735.1:p.Gly466=
NM_001257387.2:c.606G>T	NP_001244316.1:p.Gly202=
NM_001349956.2:c.1068G>T	NP_001336885.1:p.Gly356=