Canonical Allele Identifier: CA10167900

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28712013C>G , CM000684.2:g.28712013C>G	GRCh38
NC_000022.10:g.29108001C>G , CM000684.1:g.29108001C>G	GRCh37
NC_000022.9:g.27438001C>G	NCBI36
NG_008150.1:g.34822G>C
NG_008150.2:g.34854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.597G>C	ENSP00000396903.2:p.Val199=
ENST00000711048.1:c.688G>C	ENSP00000518557.1:p.Ala230Pro
ENST00000402731.6:c.487G>C	ENSP00000384835.2:p.Ala163Pro
ENST00000404276.6:c.688G>C MANE Select	ENSP00000385747.1:p.Ala230Pro
ENST00000425190.7:c.25G>C	ENSP00000390244.2:p.Ala9Pro
ENST00000464581.6:c.28G>C	ENSP00000483777.2:p.Ala10Pro
ENST00000648295.1:n.240G>C
ENST00000649563.1:c.25G>C	ENSP00000496928.1:p.Ala9Pro
ENST00000650281.1:c.688G>C	ENSP00000497000.1:p.Ala230Pro
ENST00000328354.10:c.688G>C	ENSP00000329178.6:p.Ala230Pro
ENST00000348295.7:c.688G>C	ENSP00000329012.5:p.Ala230Pro
ENST00000382580.6:c.817G>C	ENSP00000372023.2:p.Ala273Pro
ENST00000402731.5:c.688G>C	ENSP00000384835.1:p.Ala230Pro
ENST00000403642.5:c.415G>C	ENSP00000384919.1:p.Ala139Pro
ENST00000404276.5:c.688G>C	ENSP00000385747.1:p.Ala230Pro
ENST00000405598.5:c.688G>C	ENSP00000386087.1:p.Ala230Pro
ENST00000416671.5:c.*178G>C	ENSP00000402225.1:n.*178G>C
ENST00000417588.5:c.597G>C	ENSP00000412901.1:p.Val199=
ENST00000425190.6:c.25G>C	ENSP00000390244.1:p.Ala9Pro
ENST00000433028.6:c.*413G>C	ENSP00000403659.1:n.*413G>C
ENST00000433728.5:c.688G>C	ENSP00000404400.1:p.Ala230Pro
ENST00000439200.5:c.781G>C	ENSP00000408065.1:p.Ala261Pro
ENST00000439346.5:c.159G>C	ENSP00000396903.1:p.Val53=
ENST00000447421.5:c.487G>C	ENSP00000397478.2:p.Ala163Pro
ENST00000448511.5:c.578G>C	ENSP00000404567.1:n.578G>C
ENST00000464581.5:c.28G>C	ENSP00000483777.1:p.Ala10Pro
ENST00000491919.5:n.245G>C
NM_001005735.1:c.817G>C	NP_001005735.1:p.Ala273Pro
NM_001257387.1:c.25G>C	NP_001244316.1:p.Ala9Pro
NM_007194.3:c.688G>C	NP_009125.1:p.Ala230Pro
NM_145862.2:c.688G>C	NP_665861.1:p.Ala230Pro
XM_006724114.2:c.208G>C	XP_006724177.1:p.Ala70Pro
XM_006724116.2:c.145G>C	XP_006724179.2:p.Ala49Pro
XM_011529839.1:c.847G>C	XP_011528141.1:p.Ala283Pro
XM_011529840.1:c.847G>C	XP_011528142.1:p.Ala283Pro
XM_011529841.1:c.616G>C	XP_011528143.1:p.Ala206Pro
XM_011529842.1:c.517G>C	XP_011528144.1:p.Ala173Pro
XM_011529843.1:c.487G>C	XP_011528145.1:p.Ala163Pro
XM_011529844.1:c.847G>C	XP_011528146.1:p.Ala283Pro
XM_011529845.1:c.25G>C	XP_011528147.1:p.Ala9Pro
XR_937805.1:n.909G>C
XR_937806.1:n.904G>C
XR_937807.1:n.904G>C
NM_001349956.1:c.487G>C	NP_001336885.1:p.Ala163Pro
NM_007194.4:c.688G>C MANE Select	NP_009125.1:p.Ala230Pro
XM_006724114.3:c.241G>C	XP_006724177.2:p.Ala81Pro
XM_011529839.2:c.847G>C	XP_011528141.1:p.Ala283Pro
XM_011529840.3:c.847G>C	XP_011528142.1:p.Ala283Pro
XM_011529842.2:c.517G>C	XP_011528144.1:p.Ala173Pro
XM_011529844.2:c.847G>C	XP_011528146.1:p.Ala283Pro
XM_011529845.2:c.25G>C	XP_011528147.1:p.Ala9Pro
XM_017028560.1:c.811G>C	XP_016884049.1:p.Ala271Pro
XM_017028561.2:c.25G>C	XP_016884050.1:p.Ala9Pro
XM_024452148.1:c.718G>C	XP_024307916.1:p.Ala240Pro
XM_024452149.1:c.718G>C	XP_024307917.1:p.Ala240Pro
XR_937805.2:n.920G>C
XR_937806.2:n.920G>C
XR_937807.2:n.920G>C
NM_001005735.2:c.817G>C	NP_001005735.1:p.Ala273Pro
NM_001257387.2:c.25G>C	NP_001244316.1:p.Ala9Pro
NM_001349956.2:c.487G>C	NP_001336885.1:p.Ala163Pro