Canonical Allele Identifier: CA2400238343

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695842C= , CM000684.2:g.28695842C=	GRCh38
NC_000022.10:g.29091830C= , CM000684.1:g.29091830C=	GRCh37
NC_000022.9:g.27421830C=	NCBI36
NG_008150.1:g.50993G=
NG_008150.2:g.51025G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-600G=	ENSP00000518557.1:n.1009-600G=
ENST00000402731.6:c.926G=	ENSP00000384835.2:p.Gly309=
ENST00000404276.6:c.1127G= MANE Select	ENSP00000385747.1:p.Gly376=
ENST00000425190.7:c.464G=	ENSP00000390244.2:p.Gly155=
ENST00000464581.6:c.467G=	ENSP00000483777.2:p.Gly156=
ENST00000648295.1:n.679G=
ENST00000649563.1:c.464G=	ENSP00000496928.1:p.Gly155=
ENST00000650281.1:c.1127G=	ENSP00000497000.1:p.Gly376=
ENST00000328354.10:c.1127G=	ENSP00000329178.6:p.Gly376=
ENST00000348295.7:c.1040G=	ENSP00000329012.5:p.Gly347=
ENST00000382580.6:c.1256G=	ENSP00000372023.2:p.Gly419=
ENST00000402731.5:c.1040G=	ENSP00000384835.1:p.Gly347=
ENST00000403642.5:c.854G=	ENSP00000384919.1:p.Gly285=
ENST00000404276.5:c.1127G=	ENSP00000385747.1:p.Gly376=
ENST00000405598.5:c.1127G=	ENSP00000386087.1:p.Gly376=
ENST00000416671.5:c.*617G=	ENSP00000402225.1:n.*617G=
ENST00000417588.5:c.1036G=	ENSP00000412901.1:n.1036G=
ENST00000433728.5:c.1065G=	ENSP00000404400.1:n.1065G=
ENST00000434810.5:c.358G=
ENST00000448511.5:c.1017G=	ENSP00000404567.1:n.1017G=
ENST00000456369.5:c.263+3996G=
NM_001005735.1:c.1256G=	NP_001005735.1:p.Gly419=
NM_001257387.1:c.464G=	NP_001244316.1:p.Gly155=
NM_007194.3:c.1127G=	NP_009125.1:p.Gly376=
NM_145862.2:c.1040G=	NP_665861.1:p.Gly347=
XM_006724114.2:c.647G=	XP_006724177.1:p.Gly216=
XM_006724116.2:c.584G=	XP_006724179.2:p.Gly195=
XM_011529839.1:c.1286G=	XP_011528141.1:p.Gly429=
XM_011529840.1:c.1199G=	XP_011528142.1:p.Gly400=
XM_011529841.1:c.1055G=	XP_011528143.1:p.Gly352=
XM_011529842.1:c.956G=	XP_011528144.1:p.Gly319=
XM_011529843.1:c.926G=	XP_011528145.1:p.Gly309=
XM_011529845.1:c.464G=	XP_011528147.1:p.Gly155=
XR_937805.1:n.1286G=
XR_937806.1:n.1194G=
NM_001349956.1:c.926G=	NP_001336885.1:p.Gly309=
NM_007194.4:c.1127G= MANE Select	NP_009125.1:p.Gly376=
XM_006724114.3:c.680G=	XP_006724177.2:p.Gly227=
XM_011529839.2:c.1286G=	XP_011528141.1:p.Gly429=
XM_011529840.3:c.1199G=	XP_011528142.1:p.Gly400=
XM_011529842.2:c.956G=	XP_011528144.1:p.Gly319=
XM_011529845.2:c.464G=	XP_011528147.1:p.Gly155=
XM_017028560.1:c.1250G=	XP_016884049.1:p.Gly417=
XM_017028561.2:c.464G=	XP_016884050.1:p.Gly155=
XM_024452148.1:c.1157G=	XP_024307916.1:p.Gly386=
XM_024452149.1:c.1070G=	XP_024307917.1:p.Gly357=
XR_937805.2:n.1297G=
XR_937806.2:n.1210G=
NM_001005735.2:c.1256G=	NP_001005735.1:p.Gly419=
NM_001257387.2:c.464G=	NP_001244316.1:p.Gly155=
NM_001349956.2:c.926G=	NP_001336885.1:p.Gly309=