Canonical Allele Identifier: CA2400238254

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 978776
• ClinVar RCV Id: RCV001257501
• dbSNP Id: rs2052551741

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695740_28695742del , CM000684.2:g.28695740_28695742del	GRCh38
NC_000022.10:g.29091728_29091730del , CM000684.1:g.29091728_29091730del	GRCh37
NC_000022.9:g.27421728_27421730del	NCBI36
NG_008150.1:g.51096_51098del
NG_008150.2:g.51128_51130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-497_1009-495del	ENSP00000518557.1:n.1009-497_1009-495del
ENST00000402731.6:c.1029_1031del	ENSP00000384835.2:p.Cys343del
ENST00000404276.6:c.1230_1232del MANE Select	ENSP00000385747.1:p.Cys410del
ENST00000425190.7:c.567_569del	ENSP00000390244.2:p.Cys189del
ENST00000464581.6:c.570_572del	ENSP00000483777.2:p.Cys190del
ENST00000648295.1:n.782_784del
ENST00000649563.1:c.567_569del	ENSP00000496928.1:p.Cys189del
ENST00000650281.1:c.1230_1232del	ENSP00000497000.1:p.Cys410del
ENST00000328354.10:c.1230_1232del	ENSP00000329178.6:p.Cys410del
ENST00000348295.7:c.1143_1145del	ENSP00000329012.5:p.Cys381del
ENST00000382580.6:c.1359_1361del	ENSP00000372023.2:p.Cys453del
ENST00000402731.5:c.1143_1145del	ENSP00000384835.1:p.Cys381del
ENST00000403642.5:c.957_959del	ENSP00000384919.1:p.Cys319del
ENST00000404276.5:c.1230_1232del	ENSP00000385747.1:p.Cys410del
ENST00000405598.5:c.1230_1232del	ENSP00000386087.1:p.Cys410del
ENST00000416671.5:c.*720_*722del	ENSP00000402225.1:n.*720_*722del
ENST00000417588.5:c.1139_1141del	ENSP00000412901.1:n.1139_1141del
ENST00000433728.5:c.1168_1170del	ENSP00000404400.1:n.1168_1170del
ENST00000434810.5:c.461_463del
ENST00000448511.5:c.1120_1122del	ENSP00000404567.1:n.1120_1122del
ENST00000456369.5:c.263+4099_263+4101del
NM_001005735.1:c.1359_1361del	NP_001005735.1:p.Cys453del
NM_001257387.1:c.567_569del	NP_001244316.1:p.Cys189del
NM_007194.3:c.1230_1232del	NP_009125.1:p.Cys410del
NM_145862.2:c.1143_1145del	NP_665861.1:p.Cys381del
XM_006724114.2:c.750_752del	XP_006724177.1:p.Cys250del
XM_006724116.2:c.687_689del	XP_006724179.2:p.Cys229del
XM_011529839.1:c.1389_1391del	XP_011528141.1:p.Cys463del
XM_011529840.1:c.1302_1304del	XP_011528142.1:p.Cys434del
XM_011529841.1:c.1158_1160del	XP_011528143.1:p.Cys386del
XM_011529842.1:c.1059_1061del	XP_011528144.1:p.Cys353del
XM_011529843.1:c.1029_1031del	XP_011528145.1:p.Cys343del
XM_011529845.1:c.567_569del	XP_011528147.1:p.Cys189del
XR_937805.1:n.1389_1391del
NM_001349956.1:c.1029_1031del	NP_001336885.1:p.Cys343del
NM_007194.4:c.1230_1232del MANE Select	NP_009125.1:p.Cys410del
XM_006724114.3:c.783_785del	XP_006724177.2:p.Cys261del
XM_011529839.2:c.1389_1391del	XP_011528141.1:p.Cys463del
XM_011529840.3:c.1302_1304del	XP_011528142.1:p.Cys434del
XM_011529842.2:c.1059_1061del	XP_011528144.1:p.Cys353del
XM_011529845.2:c.567_569del	XP_011528147.1:p.Cys189del
XM_017028560.1:c.1353_1355del	XP_016884049.1:p.Cys451del
XM_017028561.2:c.567_569del	XP_016884050.1:p.Cys189del
XM_024452148.1:c.1260_1262del	XP_024307916.1:p.Cys420del
XM_024452149.1:c.1173_1175del	XP_024307917.1:p.Cys391del
XR_937805.2:n.1400_1402del
NM_001005735.2:c.1359_1361del	NP_001005735.1:p.Cys453del
NM_001257387.2:c.567_569del	NP_001244316.1:p.Cys189del
NM_001349956.2:c.1029_1031del	NP_001336885.1:p.Cys343del