Canonical Allele Identifier: CA2400238306

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695801A= , CM000684.2:g.28695801A=	GRCh38
NC_000022.10:g.29091789A= , CM000684.1:g.29091789A=	GRCh37
NC_000022.9:g.27421789A=	NCBI36
NG_008150.1:g.51034T=
NG_008150.2:g.51066T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-559T=	ENSP00000518557.1:n.1009-559T=
ENST00000402731.6:c.967T=	ENSP00000384835.2:p.Tyr323=
ENST00000404276.6:c.1168T= MANE Select	ENSP00000385747.1:p.Tyr390=
ENST00000425190.7:c.505T=	ENSP00000390244.2:p.Tyr169=
ENST00000464581.6:c.508T=	ENSP00000483777.2:p.Tyr170=
ENST00000648295.1:n.720T=
ENST00000649563.1:c.505T=	ENSP00000496928.1:p.Tyr169=
ENST00000650281.1:c.1168T=	ENSP00000497000.1:p.Tyr390=
ENST00000328354.10:c.1168T=	ENSP00000329178.6:p.Tyr390=
ENST00000348295.7:c.1081T=	ENSP00000329012.5:p.Tyr361=
ENST00000382580.6:c.1297T=	ENSP00000372023.2:p.Tyr433=
ENST00000402731.5:c.1081T=	ENSP00000384835.1:p.Tyr361=
ENST00000403642.5:c.895T=	ENSP00000384919.1:p.Tyr299=
ENST00000404276.5:c.1168T=	ENSP00000385747.1:p.Tyr390=
ENST00000405598.5:c.1168T=	ENSP00000386087.1:p.Tyr390=
ENST00000416671.5:c.*658T=	ENSP00000402225.1:n.*658T=
ENST00000417588.5:c.1077T=	ENSP00000412901.1:n.1077T=
ENST00000433728.5:c.1106T=	ENSP00000404400.1:n.1106T=
ENST00000434810.5:c.399T=
ENST00000448511.5:c.1058T=	ENSP00000404567.1:n.1058T=
ENST00000456369.5:c.263+4037T=
NM_001005735.1:c.1297T=	NP_001005735.1:p.Tyr433=
NM_001257387.1:c.505T=	NP_001244316.1:p.Tyr169=
NM_007194.3:c.1168T=	NP_009125.1:p.Tyr390=
NM_145862.2:c.1081T=	NP_665861.1:p.Tyr361=
XM_006724114.2:c.688T=	XP_006724177.1:p.Tyr230=
XM_006724116.2:c.625T=	XP_006724179.2:p.Tyr209=
XM_011529839.1:c.1327T=	XP_011528141.1:p.Tyr443=
XM_011529840.1:c.1240T=	XP_011528142.1:p.Tyr414=
XM_011529841.1:c.1096T=	XP_011528143.1:p.Tyr366=
XM_011529842.1:c.997T=	XP_011528144.1:p.Tyr333=
XM_011529843.1:c.967T=	XP_011528145.1:p.Tyr323=
XM_011529845.1:c.505T=	XP_011528147.1:p.Tyr169=
XR_937805.1:n.1327T=
XR_937806.1:n.1235T=
NM_001349956.1:c.967T=	NP_001336885.1:p.Tyr323=
NM_007194.4:c.1168T= MANE Select	NP_009125.1:p.Tyr390=
XM_006724114.3:c.721T=	XP_006724177.2:p.Tyr241=
XM_011529839.2:c.1327T=	XP_011528141.1:p.Tyr443=
XM_011529840.3:c.1240T=	XP_011528142.1:p.Tyr414=
XM_011529842.2:c.997T=	XP_011528144.1:p.Tyr333=
XM_011529845.2:c.505T=	XP_011528147.1:p.Tyr169=
XM_017028560.1:c.1291T=	XP_016884049.1:p.Tyr431=
XM_017028561.2:c.505T=	XP_016884050.1:p.Tyr169=
XM_024452148.1:c.1198T=	XP_024307916.1:p.Tyr400=
XM_024452149.1:c.1111T=	XP_024307917.1:p.Tyr371=
XR_937805.2:n.1338T=
XR_937806.2:n.1251T=
NM_001005735.2:c.1297T=	NP_001005735.1:p.Tyr433=
NM_001257387.2:c.505T=	NP_001244316.1:p.Tyr169=
NM_001349956.2:c.967T=	NP_001336885.1:p.Tyr323=