Canonical Allele Identifier: CA2400237505

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694077C= , CM000684.2:g.28694077C=	GRCh38
NC_000022.10:g.29090065C= , CM000684.1:g.29090065C=	GRCh37
NC_000022.9:g.27420065C=	NCBI36
NG_008150.1:g.52758G=
NG_008150.2:g.52790G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*151G=	ENSP00000518557.1:n.*151G=
ENST00000402731.6:c.1215G=	ENSP00000384835.2:p.Lys405=
ENST00000404276.6:c.1416G= MANE Select	ENSP00000385747.1:p.Lys472=
ENST00000425190.7:c.753G=	ENSP00000390244.2:p.Lys251=
ENST00000464581.6:c.756G=	ENSP00000483777.2:p.Lys252=
ENST00000648295.1:n.968G=
ENST00000649563.1:c.753G=	ENSP00000496928.1:p.Lys251=
ENST00000650281.1:c.1416G=	ENSP00000497000.1:p.Lys472=
ENST00000328354.10:c.1416G=	ENSP00000329178.6:p.Lys472=
ENST00000348295.7:c.1329G=	ENSP00000329012.5:p.Lys443=
ENST00000382580.6:c.1545G=	ENSP00000372023.2:p.Lys515=
ENST00000402731.5:c.1329G=	ENSP00000384835.1:p.Lys443=
ENST00000403642.5:c.1143G=	ENSP00000384919.1:p.Lys381=
ENST00000404276.5:c.1416G=	ENSP00000385747.1:p.Lys472=
ENST00000405598.5:c.1416G=	ENSP00000386087.1:p.Lys472=
ENST00000416671.5:c.*906G=	ENSP00000402225.1:n.*906G=
ENST00000417588.5:c.1325G=	ENSP00000412901.1:n.1325G=
ENST00000433728.5:c.1354G=	ENSP00000404400.1:n.1354G=
ENST00000434810.5:c.614G=
ENST00000448511.5:c.1306G=	ENSP00000404567.1:n.1306G=
ENST00000456369.5:c.264-4862G=
NM_001005735.1:c.1545G=	NP_001005735.1:p.Lys515=
NM_001257387.1:c.753G=	NP_001244316.1:p.Lys251=
NM_007194.3:c.1416G=	NP_009125.1:p.Lys472=
NM_145862.2:c.1329G=	NP_665861.1:p.Lys443=
XM_006724114.2:c.936G=	XP_006724177.1:p.Lys312=
XM_006724116.2:c.873G=	XP_006724179.2:p.Lys291=
XM_011529839.1:c.1575G=	XP_011528141.1:p.Lys525=
XM_011529840.1:c.1488G=	XP_011528142.1:p.Lys496=
XM_011529841.1:c.1344G=	XP_011528143.1:p.Lys448=
XM_011529842.1:c.1245G=	XP_011528144.1:p.Lys415=
XM_011529843.1:c.1215G=	XP_011528145.1:p.Lys405=
XM_011529845.1:c.753G=	XP_011528147.1:p.Lys251=
XR_937805.1:n.1575G=
NM_001349956.1:c.1215G=	NP_001336885.1:p.Lys405=
NM_007194.4:c.1416G= MANE Select	NP_009125.1:p.Lys472=
XM_006724114.3:c.969G=	XP_006724177.2:p.Lys323=
XM_011529839.2:c.1575G=	XP_011528141.1:p.Lys525=
XM_011529840.3:c.1488G=	XP_011528142.1:p.Lys496=
XM_011529842.2:c.1245G=	XP_011528144.1:p.Lys415=
XM_011529845.2:c.753G=	XP_011528147.1:p.Lys251=
XM_017028560.1:c.1539G=	XP_016884049.1:p.Lys513=
XM_017028561.2:c.753G=	XP_016884050.1:p.Lys251=
XM_024452148.1:c.1446G=	XP_024307916.1:p.Lys482=
XM_024452149.1:c.1359G=	XP_024307917.1:p.Lys453=
XR_937805.2:n.1586G=
NM_001005735.2:c.1545G=	NP_001005735.1:p.Lys515=
NM_001257387.2:c.753G=	NP_001244316.1:p.Lys251=
NM_001349956.2:c.1215G=	NP_001336885.1:p.Lys405=