Canonical Allele Identifier: CA411099475

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095845T>A (hg19) ; chr22:g.28699857T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699857T>A , CM000684.2:g.28699857T>A	GRCh38
NC_000022.10:g.29095845T>A , CM000684.1:g.29095845T>A	GRCh37
NC_000022.9:g.27425845T>A	NCBI36
NG_008150.1:g.46978A>T
NG_008150.2:g.47010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.898A>T	ENSP00000396903.2:n.898A>T
ENST00000711048.1:c.989A>T	ENSP00000518557.1:p.Gln330Leu
ENST00000402731.6:c.788A>T	ENSP00000384835.2:p.Gln263Leu
ENST00000404276.6:c.989A>T MANE Select	ENSP00000385747.1:p.Gln330Leu
ENST00000425190.7:c.326A>T	ENSP00000390244.2:p.Gln109Leu
ENST00000464581.6:c.329A>T	ENSP00000483777.2:p.Gln110Leu
ENST00000648295.1:n.541A>T
ENST00000649563.1:c.326A>T	ENSP00000496928.1:p.Gln109Leu
ENST00000650281.1:c.989A>T	ENSP00000497000.1:p.Gln330Leu
ENST00000328354.10:c.989A>T	ENSP00000329178.6:p.Gln330Leu
ENST00000348295.7:c.989A>T	ENSP00000329012.5:p.Gln330Leu
ENST00000382580.6:c.1118A>T	ENSP00000372023.2:p.Gln373Leu
ENST00000402731.5:c.989A>T	ENSP00000384835.1:p.Gln330Leu
ENST00000403642.5:c.716A>T	ENSP00000384919.1:p.Gln239Leu
ENST00000404276.5:c.989A>T	ENSP00000385747.1:p.Gln330Leu
ENST00000405598.5:c.989A>T	ENSP00000386087.1:p.Gln330Leu
ENST00000416671.5:c.*479A>T	ENSP00000402225.1:n.*479A>T
ENST00000417588.5:c.898A>T	ENSP00000412901.1:n.898A>T
ENST00000425190.6:c.326A>T	ENSP00000390244.1:p.Gln109Leu
ENST00000433028.6:c.*714A>T	ENSP00000403659.1:n.*714A>T
ENST00000433728.5:c.927A>T	ENSP00000404400.1:n.927A>T
ENST00000434810.5:c.220A>T
ENST00000439346.5:c.460A>T	ENSP00000396903.1:n.460A>T
ENST00000447421.5:c.788A>T	ENSP00000397478.2:p.Gln263Leu
ENST00000448511.5:c.879A>T	ENSP00000404567.1:n.879A>T
ENST00000456369.5:c.244A>T
ENST00000464581.5:c.329A>T	ENSP00000483777.1:p.Gln110Leu
ENST00000491919.5:n.546A>T
NM_001005735.1:c.1118A>T	NP_001005735.1:p.Gln373Leu
NM_001257387.1:c.326A>T	NP_001244316.1:p.Gln109Leu
NM_007194.3:c.989A>T	NP_009125.1:p.Gln330Leu
NM_145862.2:c.989A>T	NP_665861.1:p.Gln330Leu
XM_006724114.2:c.509A>T	XP_006724177.1:p.Gln170Leu
XM_006724116.2:c.446A>T	XP_006724179.2:p.Gln149Leu
XM_011529839.1:c.1148A>T	XP_011528141.1:p.Gln383Leu
XM_011529840.1:c.1148A>T	XP_011528142.1:p.Gln383Leu
XM_011529841.1:c.917A>T	XP_011528143.1:p.Gln306Leu
XM_011529842.1:c.818A>T	XP_011528144.1:p.Gln273Leu
XM_011529843.1:c.788A>T	XP_011528145.1:p.Gln263Leu
XM_011529844.1:c.1148A>T	XP_011528146.1:p.Gln383Leu
XM_011529845.1:c.326A>T	XP_011528147.1:p.Gln109Leu
XR_937805.1:n.1148A>T
XR_937806.1:n.1143A>T
XR_937807.1:n.1143A>T
NM_001349956.1:c.788A>T	NP_001336885.1:p.Gln263Leu
NM_007194.4:c.989A>T MANE Select	NP_009125.1:p.Gln330Leu
XM_006724114.3:c.542A>T	XP_006724177.2:p.Gln181Leu
XM_011529839.2:c.1148A>T	XP_011528141.1:p.Gln383Leu
XM_011529840.3:c.1148A>T	XP_011528142.1:p.Gln383Leu
XM_011529842.2:c.818A>T	XP_011528144.1:p.Gln273Leu
XM_011529844.2:c.1148A>T	XP_011528146.1:p.Gln383Leu
XM_011529845.2:c.326A>T	XP_011528147.1:p.Gln109Leu
XM_017028560.1:c.1112A>T	XP_016884049.1:p.Gln371Leu
XM_017028561.2:c.326A>T	XP_016884050.1:p.Gln109Leu
XM_024452148.1:c.1019A>T	XP_024307916.1:p.Gln340Leu
XM_024452149.1:c.1019A>T	XP_024307917.1:p.Gln340Leu
XR_937805.2:n.1159A>T
XR_937806.2:n.1159A>T
XR_937807.2:n.1159A>T
NM_001005735.2:c.1118A>T	NP_001005735.1:p.Gln373Leu
NM_001257387.2:c.326A>T	NP_001244316.1:p.Gln109Leu
NM_001349956.2:c.788A>T	NP_001336885.1:p.Gln263Leu