Canonical Allele Identifier: CA2697552665

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2713133
• ClinVar RCV Id: RCV003501340

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696931del , CM000684.2:g.28696931del	GRCh38
NC_000022.10:g.29092919del , CM000684.1:g.29092919del	GRCh37
NC_000022.9:g.27422919del	NCBI36
NG_008150.1:g.49904del
NG_008150.2:g.49936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1689del	ENSP00000518557.1:n.1009-1689del
ENST00000402731.6:c.864del	ENSP00000384835.2:p.Ser289HisfsTer9
ENST00000404276.6:c.1065del MANE Select	ENSP00000385747.1:p.Ser356HisfsTer9
ENST00000425190.7:c.402del	ENSP00000390244.2:p.Ser135HisfsTer9
ENST00000464581.6:c.405del	ENSP00000483777.2:p.Ser136HisfsTer9
ENST00000648295.1:n.617del
ENST00000649563.1:c.402del	ENSP00000496928.1:p.Ser135HisfsTer9
ENST00000650281.1:c.1065del	ENSP00000497000.1:p.Ser356HisfsTer9
ENST00000328354.10:c.1065del	ENSP00000329178.6:p.Ser356HisfsTer9
ENST00000348295.7:c.1009-1058del	ENSP00000329012.5:n.1009-1058del
ENST00000382580.6:c.1194del	ENSP00000372023.2:p.Ser399HisfsTer9
ENST00000402731.5:c.1009-1058del	ENSP00000384835.1:n.1009-1058del
ENST00000403642.5:c.792del	ENSP00000384919.1:p.Ser265HisfsTer9
ENST00000404276.5:c.1065del	ENSP00000385747.1:p.Ser356HisfsTer9
ENST00000405598.5:c.1065del	ENSP00000386087.1:p.Ser356HisfsTer9
ENST00000416671.5:c.*555del	ENSP00000402225.1:n.*555del
ENST00000417588.5:c.974del	ENSP00000412901.1:n.974del
ENST00000433028.6:c.*790del	ENSP00000403659.1:n.*790del
ENST00000433728.5:c.1003del	ENSP00000404400.1:n.1003del
ENST00000434810.5:c.296del
ENST00000447421.5:c.864del	ENSP00000397478.2:p.Ser289HisfsTer9
ENST00000448511.5:c.955del	ENSP00000404567.1:n.955del
ENST00000456369.5:c.263+2907del
ENST00000464581.5:c.405del	ENSP00000483777.1:p.Ser136HisfsTer?
NM_001005735.1:c.1194del	NP_001005735.1:p.Ser399HisfsTer9
NM_001257387.1:c.402del	NP_001244316.1:p.Ser135HisfsTer9
NM_007194.3:c.1065del	NP_009125.1:p.Ser356HisfsTer9
NM_145862.2:c.1009-1058del	NP_665861.1:n.1009-1058del
XM_006724114.2:c.585del	XP_006724177.1:p.Ser196HisfsTer9
XM_006724116.2:c.522del	XP_006724179.2:p.Ser175HisfsTer9
XM_011529839.1:c.1224del	XP_011528141.1:p.Ser409HisfsTer9
XM_011529840.1:c.1168-1058del	XP_011528142.1:n.1168-1058del
XM_011529841.1:c.993del	XP_011528143.1:p.Ser332HisfsTer9
XM_011529842.1:c.894del	XP_011528144.1:p.Ser299HisfsTer9
XM_011529843.1:c.864del	XP_011528145.1:p.Ser289HisfsTer9
XM_011529845.1:c.402del	XP_011528147.1:p.Ser135HisfsTer9
XR_937805.1:n.1224del
XR_937806.1:n.1163-1058del
NM_001349956.1:c.864del	NP_001336885.1:p.Ser289HisfsTer9
NM_007194.4:c.1065del MANE Select	NP_009125.1:p.Ser356HisfsTer9
XM_006724114.3:c.618del	XP_006724177.2:p.Ser207HisfsTer9
XM_011529839.2:c.1224del	XP_011528141.1:p.Ser409HisfsTer9
XM_011529840.3:c.1168-1058del	XP_011528142.1:n.1168-1058del
XM_011529842.2:c.894del	XP_011528144.1:p.Ser299HisfsTer9
XM_011529845.2:c.402del	XP_011528147.1:p.Ser135HisfsTer9
XM_017028560.1:c.1188del	XP_016884049.1:p.Ser397HisfsTer9
XM_017028561.2:c.402del	XP_016884050.1:p.Ser135HisfsTer9
XM_024452148.1:c.1095del	XP_024307916.1:p.Ser366HisfsTer9
XM_024452149.1:c.1039-1058del	XP_024307917.1:n.1039-1058del
XR_937805.2:n.1235del
XR_937806.2:n.1179-1058del
NM_001005735.2:c.1194del	NP_001005735.1:p.Ser399HisfsTer9
NM_001257387.2:c.402del	NP_001244316.1:p.Ser135HisfsTer9
NM_001349956.2:c.864del	NP_001336885.1:p.Ser289HisfsTer9