Canonical Allele Identifier: CA411097510

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1786420
• ClinVar RCV Id: RCV002417797
• MyVariant Identifiers: chr22:g.29092904C>A (hg19) ; chr22:g.28696916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696916C>A , CM000684.2:g.28696916C>A	GRCh38
NC_000022.10:g.29092904C>A , CM000684.1:g.29092904C>A	GRCh37
NC_000022.9:g.27422904C>A	NCBI36
NG_008150.1:g.49919G>T
NG_008150.2:g.49951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1674G>T	ENSP00000518557.1:n.1009-1674G>T
ENST00000402731.6:c.879G>T	ENSP00000384835.2:p.Glu293Asp
ENST00000404276.6:c.1080G>T MANE Select	ENSP00000385747.1:p.Glu360Asp
ENST00000425190.7:c.417G>T	ENSP00000390244.2:p.Glu139Asp
ENST00000464581.6:c.420G>T	ENSP00000483777.2:p.Glu140Asp
ENST00000648295.1:n.632G>T
ENST00000649563.1:c.417G>T	ENSP00000496928.1:p.Glu139Asp
ENST00000650281.1:c.1080G>T	ENSP00000497000.1:p.Glu360Asp
ENST00000328354.10:c.1080G>T	ENSP00000329178.6:p.Glu360Asp
ENST00000348295.7:c.1009-1043G>T	ENSP00000329012.5:n.1009-1043G>T
ENST00000382580.6:c.1209G>T	ENSP00000372023.2:p.Glu403Asp
ENST00000402731.5:c.1009-1043G>T	ENSP00000384835.1:n.1009-1043G>T
ENST00000403642.5:c.807G>T	ENSP00000384919.1:p.Glu269Asp
ENST00000404276.5:c.1080G>T	ENSP00000385747.1:p.Glu360Asp
ENST00000405598.5:c.1080G>T	ENSP00000386087.1:p.Glu360Asp
ENST00000416671.5:c.*570G>T	ENSP00000402225.1:n.*570G>T
ENST00000417588.5:c.989G>T	ENSP00000412901.1:n.989G>T
ENST00000433028.6:c.*805G>T	ENSP00000403659.1:n.*805G>T
ENST00000433728.5:c.1018G>T	ENSP00000404400.1:n.1018G>T
ENST00000434810.5:c.311G>T
ENST00000447421.5:c.879G>T	ENSP00000397478.2:p.Glu293Asp
ENST00000448511.5:c.970G>T	ENSP00000404567.1:n.970G>T
ENST00000456369.5:c.263+2922G>T
NM_001005735.1:c.1209G>T	NP_001005735.1:p.Glu403Asp
NM_001257387.1:c.417G>T	NP_001244316.1:p.Glu139Asp
NM_007194.3:c.1080G>T	NP_009125.1:p.Glu360Asp
NM_145862.2:c.1009-1043G>T	NP_665861.1:n.1009-1043G>T
XM_006724114.2:c.600G>T	XP_006724177.1:p.Glu200Asp
XM_006724116.2:c.537G>T	XP_006724179.2:p.Glu179Asp
XM_011529839.1:c.1239G>T	XP_011528141.1:p.Glu413Asp
XM_011529840.1:c.1168-1043G>T	XP_011528142.1:n.1168-1043G>T
XM_011529841.1:c.1008G>T	XP_011528143.1:p.Glu336Asp
XM_011529842.1:c.909G>T	XP_011528144.1:p.Glu303Asp
XM_011529843.1:c.879G>T	XP_011528145.1:p.Glu293Asp
XM_011529845.1:c.417G>T	XP_011528147.1:p.Glu139Asp
XR_937805.1:n.1239G>T
XR_937806.1:n.1163-1043G>T
NM_001349956.1:c.879G>T	NP_001336885.1:p.Glu293Asp
NM_007194.4:c.1080G>T MANE Select	NP_009125.1:p.Glu360Asp
XM_006724114.3:c.633G>T	XP_006724177.2:p.Glu211Asp
XM_011529839.2:c.1239G>T	XP_011528141.1:p.Glu413Asp
XM_011529840.3:c.1168-1043G>T	XP_011528142.1:n.1168-1043G>T
XM_011529842.2:c.909G>T	XP_011528144.1:p.Glu303Asp
XM_011529845.2:c.417G>T	XP_011528147.1:p.Glu139Asp
XM_017028560.1:c.1203G>T	XP_016884049.1:p.Glu401Asp
XM_017028561.2:c.417G>T	XP_016884050.1:p.Glu139Asp
XM_024452148.1:c.1110G>T	XP_024307916.1:p.Glu370Asp
XM_024452149.1:c.1039-1043G>T	XP_024307917.1:n.1039-1043G>T
XR_937805.2:n.1250G>T
XR_937806.2:n.1179-1043G>T
NM_001005735.2:c.1209G>T	NP_001005735.1:p.Glu403Asp
NM_001257387.2:c.417G>T	NP_001244316.1:p.Glu139Asp
NM_001349956.2:c.879G>T	NP_001336885.1:p.Glu293Asp