Canonical Allele Identifier: CA411097519

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 864117
• ClinVar RCV Id: RCV001071228
• dbSNP Id: rs2052606933
• MyVariant Identifiers: chr22:g.29092905T>A (hg19) ; chr22:g.28696917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696917T>A , CM000684.2:g.28696917T>A	GRCh38
NC_000022.10:g.29092905T>A , CM000684.1:g.29092905T>A	GRCh37
NC_000022.9:g.27422905T>A	NCBI36
NG_008150.1:g.49918A>T
NG_008150.2:g.49950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1675A>T	ENSP00000518557.1:n.1009-1675A>T
ENST00000402731.6:c.878A>T	ENSP00000384835.2:p.Glu293Val
ENST00000404276.6:c.1079A>T MANE Select	ENSP00000385747.1:p.Glu360Val
ENST00000425190.7:c.416A>T	ENSP00000390244.2:p.Glu139Val
ENST00000464581.6:c.419A>T	ENSP00000483777.2:p.Glu140Val
ENST00000648295.1:n.631A>T
ENST00000649563.1:c.416A>T	ENSP00000496928.1:p.Glu139Val
ENST00000650281.1:c.1079A>T	ENSP00000497000.1:p.Glu360Val
ENST00000328354.10:c.1079A>T	ENSP00000329178.6:p.Glu360Val
ENST00000348295.7:c.1009-1044A>T	ENSP00000329012.5:n.1009-1044A>T
ENST00000382580.6:c.1208A>T	ENSP00000372023.2:p.Glu403Val
ENST00000402731.5:c.1009-1044A>T	ENSP00000384835.1:n.1009-1044A>T
ENST00000403642.5:c.806A>T	ENSP00000384919.1:p.Glu269Val
ENST00000404276.5:c.1079A>T	ENSP00000385747.1:p.Glu360Val
ENST00000405598.5:c.1079A>T	ENSP00000386087.1:p.Glu360Val
ENST00000416671.5:c.*569A>T	ENSP00000402225.1:n.*569A>T
ENST00000417588.5:c.988A>T	ENSP00000412901.1:n.988A>T
ENST00000433028.6:c.*804A>T	ENSP00000403659.1:n.*804A>T
ENST00000433728.5:c.1017A>T	ENSP00000404400.1:n.1017A>T
ENST00000434810.5:c.310A>T
ENST00000447421.5:c.878A>T	ENSP00000397478.2:p.Glu293Val
ENST00000448511.5:c.969A>T	ENSP00000404567.1:n.969A>T
ENST00000456369.5:c.263+2921A>T
NM_001005735.1:c.1208A>T	NP_001005735.1:p.Glu403Val
NM_001257387.1:c.416A>T	NP_001244316.1:p.Glu139Val
NM_007194.3:c.1079A>T	NP_009125.1:p.Glu360Val
NM_145862.2:c.1009-1044A>T	NP_665861.1:n.1009-1044A>T
XM_006724114.2:c.599A>T	XP_006724177.1:p.Glu200Val
XM_006724116.2:c.536A>T	XP_006724179.2:p.Glu179Val
XM_011529839.1:c.1238A>T	XP_011528141.1:p.Glu413Val
XM_011529840.1:c.1168-1044A>T	XP_011528142.1:n.1168-1044A>T
XM_011529841.1:c.1007A>T	XP_011528143.1:p.Glu336Val
XM_011529842.1:c.908A>T	XP_011528144.1:p.Glu303Val
XM_011529843.1:c.878A>T	XP_011528145.1:p.Glu293Val
XM_011529845.1:c.416A>T	XP_011528147.1:p.Glu139Val
XR_937805.1:n.1238A>T
XR_937806.1:n.1163-1044A>T
NM_001349956.1:c.878A>T	NP_001336885.1:p.Glu293Val
NM_007194.4:c.1079A>T MANE Select	NP_009125.1:p.Glu360Val
XM_006724114.3:c.632A>T	XP_006724177.2:p.Glu211Val
XM_011529839.2:c.1238A>T	XP_011528141.1:p.Glu413Val
XM_011529840.3:c.1168-1044A>T	XP_011528142.1:n.1168-1044A>T
XM_011529842.2:c.908A>T	XP_011528144.1:p.Glu303Val
XM_011529845.2:c.416A>T	XP_011528147.1:p.Glu139Val
XM_017028560.1:c.1202A>T	XP_016884049.1:p.Glu401Val
XM_017028561.2:c.416A>T	XP_016884050.1:p.Glu139Val
XM_024452148.1:c.1109A>T	XP_024307916.1:p.Glu370Val
XM_024452149.1:c.1039-1044A>T	XP_024307917.1:n.1039-1044A>T
XR_937805.2:n.1249A>T
XR_937806.2:n.1179-1044A>T
NM_001005735.2:c.1208A>T	NP_001005735.1:p.Glu403Val
NM_001257387.2:c.416A>T	NP_001244316.1:p.Glu139Val
NM_001349956.2:c.878A>T	NP_001336885.1:p.Glu293Val