Canonical Allele Identifier: CA2400238295

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695785A= , CM000684.2:g.28695785A=	GRCh38
NC_000022.10:g.29091773A= , CM000684.1:g.29091773A=	GRCh37
NC_000022.9:g.27421773A=	NCBI36
NG_008150.1:g.51050T=
NG_008150.2:g.51082T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-543T=	ENSP00000518557.1:n.1009-543T=
ENST00000402731.6:c.983T=	ENSP00000384835.2:p.Val328=
ENST00000404276.6:c.1184T= MANE Select	ENSP00000385747.1:p.Val395=
ENST00000425190.7:c.521T=	ENSP00000390244.2:p.Val174=
ENST00000464581.6:c.524T=	ENSP00000483777.2:p.Val175=
ENST00000648295.1:n.736T=
ENST00000649563.1:c.521T=	ENSP00000496928.1:p.Val174=
ENST00000650281.1:c.1184T=	ENSP00000497000.1:p.Val395=
ENST00000328354.10:c.1184T=	ENSP00000329178.6:p.Val395=
ENST00000348295.7:c.1097T=	ENSP00000329012.5:p.Val366=
ENST00000382580.6:c.1313T=	ENSP00000372023.2:p.Val438=
ENST00000402731.5:c.1097T=	ENSP00000384835.1:p.Val366=
ENST00000403642.5:c.911T=	ENSP00000384919.1:p.Val304=
ENST00000404276.5:c.1184T=	ENSP00000385747.1:p.Val395=
ENST00000405598.5:c.1184T=	ENSP00000386087.1:p.Val395=
ENST00000416671.5:c.*674T=	ENSP00000402225.1:n.*674T=
ENST00000417588.5:c.1093T=	ENSP00000412901.1:n.1093T=
ENST00000433728.5:c.1122T=	ENSP00000404400.1:n.1122T=
ENST00000434810.5:c.415T=
ENST00000448511.5:c.1074T=	ENSP00000404567.1:n.1074T=
ENST00000456369.5:c.263+4053T=
NM_001005735.1:c.1313T=	NP_001005735.1:p.Val438=
NM_001257387.1:c.521T=	NP_001244316.1:p.Val174=
NM_007194.3:c.1184T=	NP_009125.1:p.Val395=
NM_145862.2:c.1097T=	NP_665861.1:p.Val366=
XM_006724114.2:c.704T=	XP_006724177.1:p.Val235=
XM_006724116.2:c.641T=	XP_006724179.2:p.Val214=
XM_011529839.1:c.1343T=	XP_011528141.1:p.Val448=
XM_011529840.1:c.1256T=	XP_011528142.1:p.Val419=
XM_011529841.1:c.1112T=	XP_011528143.1:p.Val371=
XM_011529842.1:c.1013T=	XP_011528144.1:p.Val338=
XM_011529843.1:c.983T=	XP_011528145.1:p.Val328=
XM_011529845.1:c.521T=	XP_011528147.1:p.Val174=
XR_937805.1:n.1343T=
NM_001349956.1:c.983T=	NP_001336885.1:p.Val328=
NM_007194.4:c.1184T= MANE Select	NP_009125.1:p.Val395=
XM_006724114.3:c.737T=	XP_006724177.2:p.Val246=
XM_011529839.2:c.1343T=	XP_011528141.1:p.Val448=
XM_011529840.3:c.1256T=	XP_011528142.1:p.Val419=
XM_011529842.2:c.1013T=	XP_011528144.1:p.Val338=
XM_011529845.2:c.521T=	XP_011528147.1:p.Val174=
XM_017028560.1:c.1307T=	XP_016884049.1:p.Val436=
XM_017028561.2:c.521T=	XP_016884050.1:p.Val174=
XM_024452148.1:c.1214T=	XP_024307916.1:p.Val405=
XM_024452149.1:c.1127T=	XP_024307917.1:p.Val376=
XR_937805.2:n.1354T=
NM_001005735.2:c.1313T=	NP_001005735.1:p.Val438=
NM_001257387.2:c.521T=	NP_001244316.1:p.Val174=
NM_001349956.2:c.983T=	NP_001336885.1:p.Val328=