Canonical Allele Identifier: CA2400240241

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699920A= , CM000684.2:g.28699920A=	GRCh38
NC_000022.10:g.29095908A= , CM000684.1:g.29095908A=	GRCh37
NC_000022.9:g.27425908A=	NCBI36
NG_008150.1:g.46915T=
NG_008150.2:g.46947T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.835T=	ENSP00000396903.2:n.835T=
ENST00000711048.1:c.926T=	ENSP00000518557.1:p.Leu309=
ENST00000402731.6:c.725T=	ENSP00000384835.2:p.Leu242=
ENST00000404276.6:c.926T= MANE Select	ENSP00000385747.1:p.Leu309=
ENST00000425190.7:c.263T=	ENSP00000390244.2:p.Leu88=
ENST00000464581.6:c.266T=	ENSP00000483777.2:p.Leu89=
ENST00000648295.1:n.478T=
ENST00000649563.1:c.263T=	ENSP00000496928.1:p.Leu88=
ENST00000650281.1:c.926T=	ENSP00000497000.1:p.Leu309=
ENST00000328354.10:c.926T=	ENSP00000329178.6:p.Leu309=
ENST00000348295.7:c.926T=	ENSP00000329012.5:p.Leu309=
ENST00000382580.6:c.1055T=	ENSP00000372023.2:p.Leu352=
ENST00000402731.5:c.926T=	ENSP00000384835.1:p.Leu309=
ENST00000403642.5:c.653T=	ENSP00000384919.1:p.Leu218=
ENST00000404276.5:c.926T=	ENSP00000385747.1:p.Leu309=
ENST00000405598.5:c.926T=	ENSP00000386087.1:p.Leu309=
ENST00000416671.5:c.*416T=	ENSP00000402225.1:n.*416T=
ENST00000417588.5:c.835T=	ENSP00000412901.1:n.835T=
ENST00000425190.6:c.263T=	ENSP00000390244.1:p.Leu88=
ENST00000433028.6:c.*651T=	ENSP00000403659.1:n.*651T=
ENST00000433728.5:c.864T=	ENSP00000404400.1:p.Ala288=
ENST00000434810.5:c.157T=
ENST00000439346.5:c.397T=	ENSP00000396903.1:n.397T=
ENST00000447421.5:c.725T=	ENSP00000397478.2:p.Leu242=
ENST00000448511.5:c.816T=	ENSP00000404567.1:n.816T=
ENST00000456369.5:c.181T=
ENST00000464581.5:c.266T=	ENSP00000483777.1:p.Leu89=
ENST00000491919.5:n.483T=
NM_001005735.1:c.1055T=	NP_001005735.1:p.Leu352=
NM_001257387.1:c.263T=	NP_001244316.1:p.Leu88=
NM_007194.3:c.926T=	NP_009125.1:p.Leu309=
NM_145862.2:c.926T=	NP_665861.1:p.Leu309=
XM_006724114.2:c.446T=	XP_006724177.1:p.Leu149=
XM_006724116.2:c.383T=	XP_006724179.2:p.Leu128=
XM_011529839.1:c.1085T=	XP_011528141.1:p.Leu362=
XM_011529840.1:c.1085T=	XP_011528142.1:p.Leu362=
XM_011529841.1:c.854T=	XP_011528143.1:p.Leu285=
XM_011529842.1:c.755T=	XP_011528144.1:p.Leu252=
XM_011529843.1:c.725T=	XP_011528145.1:p.Leu242=
XM_011529844.1:c.1085T=	XP_011528146.1:p.Leu362=
XM_011529845.1:c.263T=	XP_011528147.1:p.Leu88=
XR_937805.1:n.1085T=
XR_937806.1:n.1080T=
XR_937807.1:n.1080T=
NM_001349956.1:c.725T=	NP_001336885.1:p.Leu242=
NM_007194.4:c.926T= MANE Select	NP_009125.1:p.Leu309=
XM_006724114.3:c.479T=	XP_006724177.2:p.Leu160=
XM_011529839.2:c.1085T=	XP_011528141.1:p.Leu362=
XM_011529840.3:c.1085T=	XP_011528142.1:p.Leu362=
XM_011529842.2:c.755T=	XP_011528144.1:p.Leu252=
XM_011529844.2:c.1085T=	XP_011528146.1:p.Leu362=
XM_011529845.2:c.263T=	XP_011528147.1:p.Leu88=
XM_017028560.1:c.1049T=	XP_016884049.1:p.Leu350=
XM_017028561.2:c.263T=	XP_016884050.1:p.Leu88=
XM_024452148.1:c.956T=	XP_024307916.1:p.Leu319=
XM_024452149.1:c.956T=	XP_024307917.1:p.Leu319=
XR_937805.2:n.1096T=
XR_937806.2:n.1096T=
XR_937807.2:n.1096T=
NM_001005735.2:c.1055T=	NP_001005735.1:p.Leu352=
NM_001257387.2:c.263T=	NP_001244316.1:p.Leu88=
NM_001349956.2:c.725T=	NP_001336885.1:p.Leu242=