Canonical Allele Identifier: CA2499226053

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1071295
• ClinVar RCV Id: RCV001383723
• dbSNP Id: rs2145785415

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694073del , CM000684.2:g.28694073del	GRCh38
NC_000022.10:g.29090061del , CM000684.1:g.29090061del	GRCh37
NC_000022.9:g.27420061del	NCBI36
NG_008150.1:g.52762del
NG_008150.2:g.52794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*155del	ENSP00000518557.1:n.*155del
ENST00000402731.6:c.1219del	ENSP00000384835.2:p.Arg407ValfsTer8
ENST00000404276.6:c.1420del MANE Select	ENSP00000385747.1:p.Arg474ValfsTer8
ENST00000425190.7:c.757del	ENSP00000390244.2:p.Arg253ValfsTer8
ENST00000464581.6:c.760del	ENSP00000483777.2:p.Arg254ValfsTer8
ENST00000648295.1:n.972del
ENST00000649563.1:c.757del	ENSP00000496928.1:p.Arg253ValfsTer8
ENST00000650281.1:c.1420del	ENSP00000497000.1:p.Arg474ValfsTer8
ENST00000328354.10:c.1420del	ENSP00000329178.6:p.Arg474ValfsTer8
ENST00000348295.7:c.1333del	ENSP00000329012.5:p.Arg445ValfsTer8
ENST00000382580.6:c.1549del	ENSP00000372023.2:p.Arg517ValfsTer8
ENST00000402731.5:c.1333del	ENSP00000384835.1:p.Arg445ValfsTer8
ENST00000403642.5:c.1147del	ENSP00000384919.1:p.Arg383ValfsTer8
ENST00000404276.5:c.1420del	ENSP00000385747.1:p.Arg474ValfsTer8
ENST00000405598.5:c.1420del	ENSP00000386087.1:p.Arg474ValfsTer8
ENST00000416671.5:c.*910del	ENSP00000402225.1:n.*910del
ENST00000417588.5:c.1329del	ENSP00000412901.1:n.1329del
ENST00000433728.5:c.1358del	ENSP00000404400.1:n.1358del
ENST00000434810.5:c.618del
ENST00000448511.5:c.1310del	ENSP00000404567.1:n.1310del
ENST00000456369.5:c.264-4858del
NM_001005735.1:c.1549del	NP_001005735.1:p.Arg517ValfsTer8
NM_001257387.1:c.757del	NP_001244316.1:p.Arg253ValfsTer8
NM_007194.3:c.1420del	NP_009125.1:p.Arg474ValfsTer8
NM_145862.2:c.1333del	NP_665861.1:p.Arg445ValfsTer8
XM_006724114.2:c.940del	XP_006724177.1:p.Arg314ValfsTer8
XM_006724116.2:c.877del	XP_006724179.2:p.Arg293ValfsTer8
XM_011529839.1:c.1579del	XP_011528141.1:p.Arg527ValfsTer8
XM_011529840.1:c.1492del	XP_011528142.1:p.Arg498ValfsTer8
XM_011529841.1:c.1348del	XP_011528143.1:p.Arg450ValfsTer8
XM_011529842.1:c.1249del	XP_011528144.1:p.Arg417ValfsTer8
XM_011529843.1:c.1219del	XP_011528145.1:p.Arg407ValfsTer8
XM_011529845.1:c.757del	XP_011528147.1:p.Arg253ValfsTer8
XR_937805.1:n.1579del
NM_001349956.1:c.1219del	NP_001336885.1:p.Arg407ValfsTer8
NM_007194.4:c.1420del MANE Select	NP_009125.1:p.Arg474ValfsTer8
XM_006724114.3:c.973del	XP_006724177.2:p.Arg325ValfsTer8
XM_011529839.2:c.1579del	XP_011528141.1:p.Arg527ValfsTer8
XM_011529840.3:c.1492del	XP_011528142.1:p.Arg498ValfsTer8
XM_011529842.2:c.1249del	XP_011528144.1:p.Arg417ValfsTer8
XM_011529845.2:c.757del	XP_011528147.1:p.Arg253ValfsTer8
XM_017028560.1:c.1543del	XP_016884049.1:p.Arg515ValfsTer8
XM_017028561.2:c.757del	XP_016884050.1:p.Arg253ValfsTer8
XM_024452148.1:c.1450del	XP_024307916.1:p.Arg484ValfsTer8
XM_024452149.1:c.1363del	XP_024307917.1:p.Arg455ValfsTer8
XR_937805.2:n.1590del
NM_001005735.2:c.1549del	NP_001005735.1:p.Arg517ValfsTer8
NM_001257387.2:c.757del	NP_001244316.1:p.Arg253ValfsTer8
NM_001349956.2:c.1219del	NP_001336885.1:p.Arg407ValfsTer8