Canonical Allele Identifier: CA411103385

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711986C>G , CM000684.2:g.28711986C>G	GRCh38
NC_000022.10:g.29107974C>G , CM000684.1:g.29107974C>G	GRCh37
NC_000022.9:g.27437974C>G	NCBI36
NG_008150.1:g.34849G>C
NG_008150.2:g.34881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.624G>C	ENSP00000396903.2:n.624G>C
ENST00000711048.1:c.715G>C	ENSP00000518557.1:p.Glu239Gln
ENST00000402731.6:c.514G>C	ENSP00000384835.2:p.Glu172Gln
ENST00000404276.6:c.715G>C MANE Select	ENSP00000385747.1:p.Glu239Gln
ENST00000425190.7:c.52G>C	ENSP00000390244.2:p.Glu18Gln
ENST00000464581.6:c.55G>C	ENSP00000483777.2:p.Glu19Gln
ENST00000648295.1:n.267G>C
ENST00000649563.1:c.52G>C	ENSP00000496928.1:p.Glu18Gln
ENST00000650281.1:c.715G>C	ENSP00000497000.1:p.Glu239Gln
ENST00000328354.10:c.715G>C	ENSP00000329178.6:p.Glu239Gln
ENST00000348295.7:c.715G>C	ENSP00000329012.5:p.Glu239Gln
ENST00000382580.6:c.844G>C	ENSP00000372023.2:p.Glu282Gln
ENST00000402731.5:c.715G>C	ENSP00000384835.1:p.Glu239Gln
ENST00000403642.5:c.442G>C	ENSP00000384919.1:p.Glu148Gln
ENST00000404276.5:c.715G>C	ENSP00000385747.1:p.Glu239Gln
ENST00000405598.5:c.715G>C	ENSP00000386087.1:p.Glu239Gln
ENST00000416671.5:c.*205G>C	ENSP00000402225.1:n.*205G>C
ENST00000417588.5:c.624G>C	ENSP00000412901.1:n.624G>C
ENST00000425190.6:c.52G>C	ENSP00000390244.1:p.Glu18Gln
ENST00000433028.6:c.*440G>C	ENSP00000403659.1:n.*440G>C
ENST00000433728.5:c.715G>C	ENSP00000404400.1:p.Glu239Gln
ENST00000439200.5:c.808G>C	ENSP00000408065.1:p.Glu270Gln
ENST00000439346.5:c.186G>C	ENSP00000396903.1:n.186G>C
ENST00000447421.5:c.514G>C	ENSP00000397478.2:p.Glu172Gln
ENST00000448511.5:c.605G>C	ENSP00000404567.1:n.605G>C
ENST00000464581.5:c.55G>C	ENSP00000483777.1:p.Glu19Gln
ENST00000491919.5:n.272G>C
NM_001005735.1:c.844G>C	NP_001005735.1:p.Glu282Gln
NM_001257387.1:c.52G>C	NP_001244316.1:p.Glu18Gln
NM_007194.3:c.715G>C	NP_009125.1:p.Glu239Gln
NM_145862.2:c.715G>C	NP_665861.1:p.Glu239Gln
XM_006724114.2:c.235G>C	XP_006724177.1:p.Glu79Gln
XM_006724116.2:c.172G>C	XP_006724179.2:p.Glu58Gln
XM_011529839.1:c.874G>C	XP_011528141.1:p.Glu292Gln
XM_011529840.1:c.874G>C	XP_011528142.1:p.Glu292Gln
XM_011529841.1:c.643G>C	XP_011528143.1:p.Glu215Gln
XM_011529842.1:c.544G>C	XP_011528144.1:p.Glu182Gln
XM_011529843.1:c.514G>C	XP_011528145.1:p.Glu172Gln
XM_011529844.1:c.874G>C	XP_011528146.1:p.Glu292Gln
XM_011529845.1:c.52G>C	XP_011528147.1:p.Glu18Gln
XR_937805.1:n.936G>C
XR_937806.1:n.931G>C
XR_937807.1:n.931G>C
NM_001349956.1:c.514G>C	NP_001336885.1:p.Glu172Gln
NM_007194.4:c.715G>C MANE Select	NP_009125.1:p.Glu239Gln
XM_006724114.3:c.268G>C	XP_006724177.2:p.Glu90Gln
XM_011529839.2:c.874G>C	XP_011528141.1:p.Glu292Gln
XM_011529840.3:c.874G>C	XP_011528142.1:p.Glu292Gln
XM_011529842.2:c.544G>C	XP_011528144.1:p.Glu182Gln
XM_011529844.2:c.874G>C	XP_011528146.1:p.Glu292Gln
XM_011529845.2:c.52G>C	XP_011528147.1:p.Glu18Gln
XM_017028560.1:c.838G>C	XP_016884049.1:p.Glu280Gln
XM_017028561.2:c.52G>C	XP_016884050.1:p.Glu18Gln
XM_024452148.1:c.745G>C	XP_024307916.1:p.Glu249Gln
XM_024452149.1:c.745G>C	XP_024307917.1:p.Glu249Gln
XR_937805.2:n.947G>C
XR_937806.2:n.947G>C
XR_937807.2:n.947G>C
NM_001005735.2:c.844G>C	NP_001005735.1:p.Glu282Gln
NM_001257387.2:c.52G>C	NP_001244316.1:p.Glu18Gln
NM_001349956.2:c.514G>C	NP_001336885.1:p.Glu172Gln