Canonical Allele Identifier: CA2697552656

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2761045
• ClinVar RCV Id: RCV003500236

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695774_28695778del , CM000684.2:g.28695774_28695778del	GRCh38
NC_000022.10:g.29091762_29091766del , CM000684.1:g.29091762_29091766del	GRCh37
NC_000022.9:g.27421762_27421766del	NCBI36
NG_008150.1:g.51059_51063del
NG_008150.2:g.51091_51095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-534_1009-530del	ENSP00000518557.1:n.1009-534_1009-530del
ENST00000402731.6:c.992_996del	ENSP00000384835.2:p.Ser331TrpfsTer6
ENST00000404276.6:c.1193_1197del MANE Select	ENSP00000385747.1:p.Ser398TrpfsTer6
ENST00000425190.7:c.530_534del	ENSP00000390244.2:p.Ser177TrpfsTer6
ENST00000464581.6:c.533_537del	ENSP00000483777.2:p.Ser178TrpfsTer6
ENST00000648295.1:n.745_749del
ENST00000649563.1:c.530_534del	ENSP00000496928.1:p.Ser177TrpfsTer6
ENST00000650281.1:c.1193_1197del	ENSP00000497000.1:p.Ser398TrpfsTer6
ENST00000328354.10:c.1193_1197del	ENSP00000329178.6:p.Ser398TrpfsTer6
ENST00000348295.7:c.1106_1110del	ENSP00000329012.5:p.Ser369TrpfsTer6
ENST00000382580.6:c.1322_1326del	ENSP00000372023.2:p.Ser441TrpfsTer6
ENST00000402731.5:c.1106_1110del	ENSP00000384835.1:p.Ser369TrpfsTer6
ENST00000403642.5:c.920_924del	ENSP00000384919.1:p.Ser307TrpfsTer6
ENST00000404276.5:c.1193_1197del	ENSP00000385747.1:p.Ser398TrpfsTer6
ENST00000405598.5:c.1193_1197del	ENSP00000386087.1:p.Ser398TrpfsTer6
ENST00000416671.5:c.*683_*687del	ENSP00000402225.1:n.*683_*687del
ENST00000417588.5:c.1102_1106del	ENSP00000412901.1:n.1102_1106del
ENST00000433728.5:c.1131_1135del	ENSP00000404400.1:n.1131_1135del
ENST00000434810.5:c.424_428del
ENST00000448511.5:c.1083_1087del	ENSP00000404567.1:n.1083_1087del
ENST00000456369.5:c.263+4062_263+4066del
NM_001005735.1:c.1322_1326del	NP_001005735.1:p.Ser441TrpfsTer6
NM_001257387.1:c.530_534del	NP_001244316.1:p.Ser177TrpfsTer6
NM_007194.3:c.1193_1197del	NP_009125.1:p.Ser398TrpfsTer6
NM_145862.2:c.1106_1110del	NP_665861.1:p.Ser369TrpfsTer6
XM_006724114.2:c.713_717del	XP_006724177.1:p.Ser238TrpfsTer6
XM_006724116.2:c.650_654del	XP_006724179.2:p.Ser217TrpfsTer6
XM_011529839.1:c.1352_1356del	XP_011528141.1:p.Ser451TrpfsTer6
XM_011529840.1:c.1265_1269del	XP_011528142.1:p.Ser422TrpfsTer6
XM_011529841.1:c.1121_1125del	XP_011528143.1:p.Ser374TrpfsTer6
XM_011529842.1:c.1022_1026del	XP_011528144.1:p.Ser341TrpfsTer6
XM_011529843.1:c.992_996del	XP_011528145.1:p.Ser331TrpfsTer6
XM_011529845.1:c.530_534del	XP_011528147.1:p.Ser177TrpfsTer6
XR_937805.1:n.1352_1356del
NM_001349956.1:c.992_996del	NP_001336885.1:p.Ser331TrpfsTer6
NM_007194.4:c.1193_1197del MANE Select	NP_009125.1:p.Ser398TrpfsTer6
XM_006724114.3:c.746_750del	XP_006724177.2:p.Ser249TrpfsTer6
XM_011529839.2:c.1352_1356del	XP_011528141.1:p.Ser451TrpfsTer6
XM_011529840.3:c.1265_1269del	XP_011528142.1:p.Ser422TrpfsTer6
XM_011529842.2:c.1022_1026del	XP_011528144.1:p.Ser341TrpfsTer6
XM_011529845.2:c.530_534del	XP_011528147.1:p.Ser177TrpfsTer6
XM_017028560.1:c.1316_1320del	XP_016884049.1:p.Ser439TrpfsTer6
XM_017028561.2:c.530_534del	XP_016884050.1:p.Ser177TrpfsTer6
XM_024452148.1:c.1223_1227del	XP_024307916.1:p.Ser408TrpfsTer6
XM_024452149.1:c.1136_1140del	XP_024307917.1:p.Ser379TrpfsTer6
XR_937805.2:n.1363_1367del
NM_001005735.2:c.1322_1326del	NP_001005735.1:p.Ser441TrpfsTer6
NM_001257387.2:c.530_534del	NP_001244316.1:p.Ser177TrpfsTer6
NM_001349956.2:c.992_996del	NP_001336885.1:p.Ser331TrpfsTer6