Canonical Allele Identifier: CA2400237499

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694070A= , CM000684.2:g.28694070A=	GRCh38
NC_000022.10:g.29090058A= , CM000684.1:g.29090058A=	GRCh37
NC_000022.9:g.27420058A=	NCBI36
NG_008150.1:g.52765T=
NG_008150.2:g.52797T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*158T=	ENSP00000518557.1:n.*158T=
ENST00000402731.6:c.1222T=	ENSP00000384835.2:p.Phe408=
ENST00000404276.6:c.1423T= MANE Select	ENSP00000385747.1:p.Phe475=
ENST00000425190.7:c.760T=	ENSP00000390244.2:p.Phe254=
ENST00000464581.6:c.763T=	ENSP00000483777.2:p.Phe255=
ENST00000648295.1:n.975T=
ENST00000649563.1:c.760T=	ENSP00000496928.1:p.Phe254=
ENST00000650281.1:c.1423T=	ENSP00000497000.1:p.Phe475=
ENST00000328354.10:c.1423T=	ENSP00000329178.6:p.Phe475=
ENST00000348295.7:c.1336T=	ENSP00000329012.5:p.Phe446=
ENST00000382580.6:c.1552T=	ENSP00000372023.2:p.Phe518=
ENST00000402731.5:c.1336T=	ENSP00000384835.1:p.Phe446=
ENST00000403642.5:c.1150T=	ENSP00000384919.1:p.Phe384=
ENST00000404276.5:c.1423T=	ENSP00000385747.1:p.Phe475=
ENST00000405598.5:c.1423T=	ENSP00000386087.1:p.Phe475=
ENST00000416671.5:c.*913T=	ENSP00000402225.1:n.*913T=
ENST00000417588.5:c.1332T=	ENSP00000412901.1:n.1332T=
ENST00000433728.5:c.1361T=	ENSP00000404400.1:n.1361T=
ENST00000434810.5:c.621T=
ENST00000448511.5:c.1313T=	ENSP00000404567.1:n.1313T=
ENST00000456369.5:c.264-4855T=
NM_001005735.1:c.1552T=	NP_001005735.1:p.Phe518=
NM_001257387.1:c.760T=	NP_001244316.1:p.Phe254=
NM_007194.3:c.1423T=	NP_009125.1:p.Phe475=
NM_145862.2:c.1336T=	NP_665861.1:p.Phe446=
XM_006724114.2:c.943T=	XP_006724177.1:p.Phe315=
XM_006724116.2:c.880T=	XP_006724179.2:p.Phe294=
XM_011529839.1:c.1582T=	XP_011528141.1:p.Phe528=
XM_011529840.1:c.1495T=	XP_011528142.1:p.Phe499=
XM_011529841.1:c.1351T=	XP_011528143.1:p.Phe451=
XM_011529842.1:c.1252T=	XP_011528144.1:p.Phe418=
XM_011529843.1:c.1222T=	XP_011528145.1:p.Phe408=
XM_011529845.1:c.760T=	XP_011528147.1:p.Phe254=
XR_937805.1:n.1582T=
NM_001349956.1:c.1222T=	NP_001336885.1:p.Phe408=
NM_007194.4:c.1423T= MANE Select	NP_009125.1:p.Phe475=
XM_006724114.3:c.976T=	XP_006724177.2:p.Phe326=
XM_011529839.2:c.1582T=	XP_011528141.1:p.Phe528=
XM_011529840.3:c.1495T=	XP_011528142.1:p.Phe499=
XM_011529842.2:c.1252T=	XP_011528144.1:p.Phe418=
XM_011529845.2:c.760T=	XP_011528147.1:p.Phe254=
XM_017028560.1:c.1546T=	XP_016884049.1:p.Phe516=
XM_017028561.2:c.760T=	XP_016884050.1:p.Phe254=
XM_024452148.1:c.1453T=	XP_024307916.1:p.Phe485=
XM_024452149.1:c.1366T=	XP_024307917.1:p.Phe456=
XR_937805.2:n.1593T=
NM_001005735.2:c.1552T=	NP_001005735.1:p.Phe518=
NM_001257387.2:c.760T=	NP_001244316.1:p.Phe254=
NM_001349956.2:c.1222T=	NP_001336885.1:p.Phe408=