Canonical Allele Identifier: CA1139667019

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 955562
• ClinVar RCV Id: RCV001228230
• dbSNP Id: rs2052556835

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695776del , CM000684.2:g.28695776del	GRCh38
NC_000022.10:g.29091764del , CM000684.1:g.29091764del	GRCh37
NC_000022.9:g.27421764del	NCBI36
NG_008150.1:g.51059del
NG_008150.2:g.51091del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-534del	ENSP00000518557.1:n.1009-534del
ENST00000402731.6:c.992del	ENSP00000384835.2:p.Ser331LeufsTer16
ENST00000404276.6:c.1193del MANE Select	ENSP00000385747.1:p.Ser398LeufsTer16
ENST00000425190.7:c.530del	ENSP00000390244.2:p.Ser177LeufsTer16
ENST00000464581.6:c.533del	ENSP00000483777.2:p.Ser178LeufsTer16
ENST00000648295.1:n.745del
ENST00000649563.1:c.530del	ENSP00000496928.1:p.Ser177LeufsTer16
ENST00000650281.1:c.1193del	ENSP00000497000.1:p.Ser398LeufsTer16
ENST00000328354.10:c.1193del	ENSP00000329178.6:p.Ser398LeufsTer16
ENST00000348295.7:c.1106del	ENSP00000329012.5:p.Ser369LeufsTer16
ENST00000382580.6:c.1322del	ENSP00000372023.2:p.Ser441LeufsTer16
ENST00000402731.5:c.1106del	ENSP00000384835.1:p.Ser369LeufsTer16
ENST00000403642.5:c.920del	ENSP00000384919.1:p.Ser307LeufsTer16
ENST00000404276.5:c.1193del	ENSP00000385747.1:p.Ser398LeufsTer16
ENST00000405598.5:c.1193del	ENSP00000386087.1:p.Ser398LeufsTer16
ENST00000416671.5:c.*683del	ENSP00000402225.1:n.*683del
ENST00000417588.5:c.1102del	ENSP00000412901.1:n.1102del
ENST00000433728.5:c.1131del	ENSP00000404400.1:n.1131del
ENST00000434810.5:c.424del
ENST00000448511.5:c.1083del	ENSP00000404567.1:n.1083del
ENST00000456369.5:c.263+4062del
NM_001005735.1:c.1322del	NP_001005735.1:p.Ser441LeufsTer16
NM_001257387.1:c.530del	NP_001244316.1:p.Ser177LeufsTer16
NM_007194.3:c.1193del	NP_009125.1:p.Ser398LeufsTer16
NM_145862.2:c.1106del	NP_665861.1:p.Ser369LeufsTer16
XM_006724114.2:c.713del	XP_006724177.1:p.Ser238LeufsTer16
XM_006724116.2:c.650del	XP_006724179.2:p.Ser217LeufsTer16
XM_011529839.1:c.1352del	XP_011528141.1:p.Ser451LeufsTer16
XM_011529840.1:c.1265del	XP_011528142.1:p.Ser422LeufsTer16
XM_011529841.1:c.1121del	XP_011528143.1:p.Ser374LeufsTer16
XM_011529842.1:c.1022del	XP_011528144.1:p.Ser341LeufsTer16
XM_011529843.1:c.992del	XP_011528145.1:p.Ser331LeufsTer16
XM_011529845.1:c.530del	XP_011528147.1:p.Ser177LeufsTer16
XR_937805.1:n.1352del
NM_001349956.1:c.992del	NP_001336885.1:p.Ser331LeufsTer16
NM_007194.4:c.1193del MANE Select	NP_009125.1:p.Ser398LeufsTer16
XM_006724114.3:c.746del	XP_006724177.2:p.Ser249LeufsTer16
XM_011529839.2:c.1352del	XP_011528141.1:p.Ser451LeufsTer16
XM_011529840.3:c.1265del	XP_011528142.1:p.Ser422LeufsTer16
XM_011529842.2:c.1022del	XP_011528144.1:p.Ser341LeufsTer16
XM_011529845.2:c.530del	XP_011528147.1:p.Ser177LeufsTer16
XM_017028560.1:c.1316del	XP_016884049.1:p.Ser439LeufsTer16
XM_017028561.2:c.530del	XP_016884050.1:p.Ser177LeufsTer16
XM_024452148.1:c.1223del	XP_024307916.1:p.Ser408LeufsTer16
XM_024452149.1:c.1136del	XP_024307917.1:p.Ser379LeufsTer16
XR_937805.2:n.1363del
NM_001005735.2:c.1322del	NP_001005735.1:p.Ser441LeufsTer16
NM_001257387.2:c.530del	NP_001244316.1:p.Ser177LeufsTer16
NM_001349956.2:c.992del	NP_001336885.1:p.Ser331LeufsTer16