Canonical Allele Identifier: CA2400237930

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695134T= , CM000684.2:g.28695134T=	GRCh38
NC_000022.10:g.29091122T= , CM000684.1:g.29091122T=	GRCh37
NC_000022.9:g.27421122T=	NCBI36
NG_008150.1:g.51701A=
NG_008150.2:g.51733A=

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1368A= MANE Select	NP_009125.1:p.Ser456=
ENST00000404276.6:c.1368A= MANE Select	ENSP00000385747.1:p.Ser456=
NM_001005735.1:c.1497A=	NP_001005735.1:p.Ser499=
NM_001005735.2:c.1497A=	NP_001005735.1:p.Ser499=
NM_001257387.1:c.705A=	NP_001244316.1:p.Ser235=
NM_001257387.2:c.705A=	NP_001244316.1:p.Ser235=
NM_001349956.1:c.1167A=	NP_001336885.1:p.Ser389=
NM_001349956.2:c.1167A=	NP_001336885.1:p.Ser389=
NM_007194.3:c.1368A=	NP_009125.1:p.Ser456=
NM_145862.2:c.1281A=	NP_665861.1:p.Ser427=
ENST00000328354.10:c.1368A=	ENSP00000329178.6:p.Ser456=
ENST00000348295.7:c.1281A=	ENSP00000329012.5:p.Ser427=
ENST00000382580.6:c.1497A=	ENSP00000372023.2:p.Ser499=
ENST00000402731.5:c.1281A=	ENSP00000384835.1:p.Ser427=
ENST00000402731.6:c.1167A=	ENSP00000384835.2:p.Ser389=
ENST00000403642.5:c.1095A=	ENSP00000384919.1:p.Ser365=
ENST00000404276.5:c.1368A=	ENSP00000385747.1:p.Ser456=
ENST00000405598.5:c.1368A=	ENSP00000386087.1:p.Ser456=
ENST00000416671.5:c.*858A=	ENSP00000402225.1:n.*858A=
ENST00000417588.5:c.1277A=	ENSP00000412901.1:n.1277A=
ENST00000425190.7:c.705A=	ENSP00000390244.2:p.Ser235=
ENST00000433728.5:c.1306A=	ENSP00000404400.1:n.1306A=
ENST00000434810.5:c.566A=
ENST00000448511.5:c.1258A=	ENSP00000404567.1:n.1258A=
ENST00000456369.5:c.263+4704A=
ENST00000464581.6:c.708A=	ENSP00000483777.2:p.Ser236=
ENST00000648295.1:n.920A=
ENST00000649563.1:c.705A=	ENSP00000496928.1:p.Ser235=
ENST00000650281.1:c.1368A=	ENSP00000497000.1:p.Ser456=
ENST00000711048.1:c.*103A=	ENSP00000518557.1:n.*103A=
XM_006724114.2:c.888A=	XP_006724177.1:p.Ser296=
XM_006724114.3:c.921A=	XP_006724177.2:p.Ser307=
XM_006724116.2:c.825A=	XP_006724179.2:p.Ser275=
XM_011529839.1:c.1527A=	XP_011528141.1:p.Ser509=
XM_011529839.2:c.1527A=	XP_011528141.1:p.Ser509=
XM_011529840.1:c.1440A=	XP_011528142.1:p.Ser480=
XM_011529840.3:c.1440A=	XP_011528142.1:p.Ser480=
XM_011529841.1:c.1296A=	XP_011528143.1:p.Ser432=
XM_011529842.1:c.1197A=	XP_011528144.1:p.Ser399=
XM_011529842.2:c.1197A=	XP_011528144.1:p.Ser399=
XM_011529843.1:c.1167A=	XP_011528145.1:p.Ser389=
XM_011529845.1:c.705A=	XP_011528147.1:p.Ser235=
XM_011529845.2:c.705A=	XP_011528147.1:p.Ser235=
XM_017028560.1:c.1491A=	XP_016884049.1:p.Ser497=
XM_017028561.2:c.705A=	XP_016884050.1:p.Ser235=
XM_024452148.1:c.1398A=	XP_024307916.1:p.Ser466=
XM_024452149.1:c.1311A=	XP_024307917.1:p.Ser437=
XR_937805.1:n.1527A=
XR_937805.2:n.1538A=