Canonical Allele Identifier: CA513945027

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145842868
• MyVariant Identifiers: chr22:g.29095865G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699877G>C , CM000684.2:g.28699877G>C	GRCh38
NC_000022.10:g.29095865G>C , CM000684.1:g.29095865G>C	GRCh37
NC_000022.9:g.27425865G>C	NCBI36
NG_008150.1:g.46958C>G
NG_008150.2:g.46990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.878C>G	ENSP00000396903.2:n.878C>G
ENST00000711048.1:c.969C>G	ENSP00000518557.1:p.Thr323=
ENST00000402731.6:c.768C>G	ENSP00000384835.2:p.Thr256=
ENST00000404276.6:c.969C>G MANE Select	ENSP00000385747.1:p.Thr323=
ENST00000425190.7:c.306C>G	ENSP00000390244.2:p.Thr102=
ENST00000464581.6:c.309C>G	ENSP00000483777.2:p.Thr103=
ENST00000648295.1:n.521C>G
ENST00000649563.1:c.306C>G	ENSP00000496928.1:p.Thr102=
ENST00000650281.1:c.969C>G	ENSP00000497000.1:p.Thr323=
ENST00000328354.10:c.969C>G	ENSP00000329178.6:p.Thr323=
ENST00000348295.7:c.969C>G	ENSP00000329012.5:p.Thr323=
ENST00000382580.6:c.1098C>G	ENSP00000372023.2:p.Thr366=
ENST00000402731.5:c.969C>G	ENSP00000384835.1:p.Thr323=
ENST00000403642.5:c.696C>G	ENSP00000384919.1:p.Thr232=
ENST00000404276.5:c.969C>G	ENSP00000385747.1:p.Thr323=
ENST00000405598.5:c.969C>G	ENSP00000386087.1:p.Thr323=
ENST00000416671.5:c.*459C>G	ENSP00000402225.1:n.*459C>G
ENST00000417588.5:c.878C>G	ENSP00000412901.1:n.878C>G
ENST00000425190.6:c.306C>G	ENSP00000390244.1:p.Thr102=
ENST00000433028.6:c.*694C>G	ENSP00000403659.1:n.*694C>G
ENST00000433728.5:c.907C>G	ENSP00000404400.1:n.907C>G
ENST00000434810.5:c.200C>G
ENST00000439346.5:c.440C>G	ENSP00000396903.1:n.440C>G
ENST00000447421.5:c.768C>G	ENSP00000397478.2:p.Thr256=
ENST00000448511.5:c.859C>G	ENSP00000404567.1:n.859C>G
ENST00000456369.5:c.224C>G
ENST00000464581.5:c.309C>G	ENSP00000483777.1:p.Thr103=
ENST00000491919.5:n.526C>G
NM_001005735.1:c.1098C>G	NP_001005735.1:p.Thr366=
NM_001257387.1:c.306C>G	NP_001244316.1:p.Thr102=
NM_007194.3:c.969C>G	NP_009125.1:p.Thr323=
NM_145862.2:c.969C>G	NP_665861.1:p.Thr323=
XM_006724114.2:c.489C>G	XP_006724177.1:p.Thr163=
XM_006724116.2:c.426C>G	XP_006724179.2:p.Thr142=
XM_011529839.1:c.1128C>G	XP_011528141.1:p.Thr376=
XM_011529840.1:c.1128C>G	XP_011528142.1:p.Thr376=
XM_011529841.1:c.897C>G	XP_011528143.1:p.Thr299=
XM_011529842.1:c.798C>G	XP_011528144.1:p.Thr266=
XM_011529843.1:c.768C>G	XP_011528145.1:p.Thr256=
XM_011529844.1:c.1128C>G	XP_011528146.1:p.Thr376=
XM_011529845.1:c.306C>G	XP_011528147.1:p.Thr102=
XR_937805.1:n.1128C>G
XR_937806.1:n.1123C>G
XR_937807.1:n.1123C>G
NM_001349956.1:c.768C>G	NP_001336885.1:p.Thr256=
NM_007194.4:c.969C>G MANE Select	NP_009125.1:p.Thr323=
XM_006724114.3:c.522C>G	XP_006724177.2:p.Thr174=
XM_011529839.2:c.1128C>G	XP_011528141.1:p.Thr376=
XM_011529840.3:c.1128C>G	XP_011528142.1:p.Thr376=
XM_011529842.2:c.798C>G	XP_011528144.1:p.Thr266=
XM_011529844.2:c.1128C>G	XP_011528146.1:p.Thr376=
XM_011529845.2:c.306C>G	XP_011528147.1:p.Thr102=
XM_017028560.1:c.1092C>G	XP_016884049.1:p.Thr364=
XM_017028561.2:c.306C>G	XP_016884050.1:p.Thr102=
XM_024452148.1:c.999C>G	XP_024307916.1:p.Thr333=
XM_024452149.1:c.999C>G	XP_024307917.1:p.Thr333=
XR_937805.2:n.1139C>G
XR_937806.2:n.1139C>G
XR_937807.2:n.1139C>G
NM_001005735.2:c.1098C>G	NP_001005735.1:p.Thr366=
NM_001257387.2:c.306C>G	NP_001244316.1:p.Thr102=
NM_001349956.2:c.768C>G	NP_001336885.1:p.Thr256=