Canonical Allele Identifier: CA2400238332

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695832A= , CM000684.2:g.28695832A=	GRCh38
NC_000022.10:g.29091820A= , CM000684.1:g.29091820A=	GRCh37
NC_000022.9:g.27421820A=	NCBI36
NG_008150.1:g.51003T=
NG_008150.2:g.51035T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-590T=	ENSP00000518557.1:n.1009-590T=
ENST00000402731.6:c.936T=	ENSP00000384835.2:p.Ser312=
ENST00000404276.6:c.1137T= MANE Select	ENSP00000385747.1:p.Ser379=
ENST00000425190.7:c.474T=	ENSP00000390244.2:p.Ser158=
ENST00000464581.6:c.477T=	ENSP00000483777.2:p.Ser159=
ENST00000648295.1:n.689T=
ENST00000649563.1:c.474T=	ENSP00000496928.1:p.Ser158=
ENST00000650281.1:c.1137T=	ENSP00000497000.1:p.Ser379=
ENST00000328354.10:c.1137T=	ENSP00000329178.6:p.Ser379=
ENST00000348295.7:c.1050T=	ENSP00000329012.5:p.Ser350=
ENST00000382580.6:c.1266T=	ENSP00000372023.2:p.Ser422=
ENST00000402731.5:c.1050T=	ENSP00000384835.1:p.Ser350=
ENST00000403642.5:c.864T=	ENSP00000384919.1:p.Ser288=
ENST00000404276.5:c.1137T=	ENSP00000385747.1:p.Ser379=
ENST00000405598.5:c.1137T=	ENSP00000386087.1:p.Ser379=
ENST00000416671.5:c.*627T=	ENSP00000402225.1:n.*627T=
ENST00000417588.5:c.1046T=	ENSP00000412901.1:n.1046T=
ENST00000433728.5:c.1075T=	ENSP00000404400.1:n.1075T=
ENST00000434810.5:c.368T=
ENST00000448511.5:c.1027T=	ENSP00000404567.1:n.1027T=
ENST00000456369.5:c.263+4006T=
NM_001005735.1:c.1266T=	NP_001005735.1:p.Ser422=
NM_001257387.1:c.474T=	NP_001244316.1:p.Ser158=
NM_007194.3:c.1137T=	NP_009125.1:p.Ser379=
NM_145862.2:c.1050T=	NP_665861.1:p.Ser350=
XM_006724114.2:c.657T=	XP_006724177.1:p.Ser219=
XM_006724116.2:c.594T=	XP_006724179.2:p.Ser198=
XM_011529839.1:c.1296T=	XP_011528141.1:p.Ser432=
XM_011529840.1:c.1209T=	XP_011528142.1:p.Ser403=
XM_011529841.1:c.1065T=	XP_011528143.1:p.Ser355=
XM_011529842.1:c.966T=	XP_011528144.1:p.Ser322=
XM_011529843.1:c.936T=	XP_011528145.1:p.Ser312=
XM_011529845.1:c.474T=	XP_011528147.1:p.Ser158=
XR_937805.1:n.1296T=
XR_937806.1:n.1204T=
NM_001349956.1:c.936T=	NP_001336885.1:p.Ser312=
NM_007194.4:c.1137T= MANE Select	NP_009125.1:p.Ser379=
XM_006724114.3:c.690T=	XP_006724177.2:p.Ser230=
XM_011529839.2:c.1296T=	XP_011528141.1:p.Ser432=
XM_011529840.3:c.1209T=	XP_011528142.1:p.Ser403=
XM_011529842.2:c.966T=	XP_011528144.1:p.Ser322=
XM_011529845.2:c.474T=	XP_011528147.1:p.Ser158=
XM_017028560.1:c.1260T=	XP_016884049.1:p.Ser420=
XM_017028561.2:c.474T=	XP_016884050.1:p.Ser158=
XM_024452148.1:c.1167T=	XP_024307916.1:p.Ser389=
XM_024452149.1:c.1080T=	XP_024307917.1:p.Ser360=
XR_937805.2:n.1307T=
XR_937806.2:n.1220T=
NM_001005735.2:c.1266T=	NP_001005735.1:p.Ser422=
NM_001257387.2:c.474T=	NP_001244316.1:p.Ser158=
NM_001349956.2:c.936T=	NP_001336885.1:p.Ser312=