Canonical Allele Identifier: CA10167605

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687938C>T , CM000684.2:g.28687938C>T	GRCh38
NC_000022.10:g.29083926C>T , CM000684.1:g.29083926C>T	GRCh37
NC_000022.9:g.27413926C>T	NCBI36
NG_008150.1:g.58897G>A
NG_008150.2:g.58929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*326G>A	ENSP00000518557.1:n.*326G>A
ENST00000402731.6:c.1390G>A	ENSP00000384835.2:p.Glu464Lys
ENST00000404276.6:c.1591G>A MANE Select	ENSP00000385747.1:p.Glu531Lys
ENST00000425190.7:c.928G>A	ENSP00000390244.2:p.Glu310Lys
ENST00000464581.6:c.931G>A	ENSP00000483777.2:p.Glu311Lys
ENST00000648295.1:n.1143G>A
ENST00000649563.1:c.928G>A	ENSP00000496928.1:p.Glu310Lys
ENST00000650281.1:c.1591G>A	ENSP00000497000.1:p.Glu531Lys
ENST00000328354.10:c.1591G>A	ENSP00000329178.6:p.Glu531Lys
ENST00000348295.7:c.1504G>A	ENSP00000329012.5:p.Glu502Lys
ENST00000382580.6:c.1720G>A	ENSP00000372023.2:p.Glu574Lys
ENST00000402731.5:c.1504G>A	ENSP00000384835.1:p.Glu502Lys
ENST00000403642.5:c.1318G>A	ENSP00000384919.1:p.Glu440Lys
ENST00000404276.5:c.1591G>A	ENSP00000385747.1:p.Glu531Lys
ENST00000405598.5:c.1591G>A	ENSP00000386087.1:p.Glu531Lys
ENST00000416671.5:c.*1081G>A	ENSP00000402225.1:n.*1081G>A
ENST00000417588.5:c.1500G>A	ENSP00000412901.1:n.1500G>A
ENST00000433728.5:c.1529G>A	ENSP00000404400.1:n.1529G>A
ENST00000434810.5:c.789G>A
ENST00000448511.5:c.1481G>A	ENSP00000404567.1:n.1481G>A
ENST00000456369.5:c.393G>A
ENST00000472807.1:n.325G>A
NM_001005735.1:c.1720G>A	NP_001005735.1:p.Glu574Lys
NM_001257387.1:c.928G>A	NP_001244316.1:p.Glu310Lys
NM_007194.3:c.1591G>A	NP_009125.1:p.Glu531Lys
NM_145862.2:c.1504G>A	NP_665861.1:p.Glu502Lys
XM_006724114.2:c.1111G>A	XP_006724177.1:p.Glu371Lys
XM_006724116.2:c.1048G>A	XP_006724179.2:p.Glu350Lys
XM_011529839.1:c.1750G>A	XP_011528141.1:p.Glu584Lys
XM_011529840.1:c.1663G>A	XP_011528142.1:p.Glu555Lys
XM_011529841.1:c.1519G>A	XP_011528143.1:p.Glu507Lys
XM_011529842.1:c.1420G>A	XP_011528144.1:p.Glu474Lys
XM_011529843.1:c.1390G>A	XP_011528145.1:p.Glu464Lys
XM_011529845.1:c.928G>A	XP_011528147.1:p.Glu310Lys
XR_937805.1:n.1750G>A
NM_001349956.1:c.1390G>A	NP_001336885.1:p.Glu464Lys
NM_007194.4:c.1591G>A MANE Select	NP_009125.1:p.Glu531Lys
XM_006724114.3:c.1144G>A	XP_006724177.2:p.Glu382Lys
XM_011529839.2:c.1750G>A	XP_011528141.1:p.Glu584Lys
XM_011529840.3:c.1663G>A	XP_011528142.1:p.Glu555Lys
XM_011529842.2:c.1420G>A	XP_011528144.1:p.Glu474Lys
XM_011529845.2:c.928G>A	XP_011528147.1:p.Glu310Lys
XM_017028560.1:c.1714G>A	XP_016884049.1:p.Glu572Lys
XM_017028561.2:c.928G>A	XP_016884050.1:p.Glu310Lys
XM_024452148.1:c.1621G>A	XP_024307916.1:p.Glu541Lys
XM_024452149.1:c.1534G>A	XP_024307917.1:p.Glu512Lys
XR_937805.2:n.1761G>A
NM_001005735.2:c.1720G>A	NP_001005735.1:p.Glu574Lys
NM_001257387.2:c.928G>A	NP_001244316.1:p.Glu310Lys
NM_001349956.2:c.1390G>A	NP_001336885.1:p.Glu464Lys