Canonical Allele Identifier: CA2580615281

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1776600
• ClinVar RCV Id: RCV002394884

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699843_28699844del , CM000684.2:g.28699843_28699844del	GRCh38
NC_000022.10:g.29095831_29095832del , CM000684.1:g.29095831_29095832del	GRCh37
NC_000022.9:g.27425831_27425832del	NCBI36
NG_008150.1:g.46993_46994del
NG_008150.2:g.47025_47026del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.913_914del	ENSP00000396903.2:n.913_914del
ENST00000711048.1:c.1004_1005del	ENSP00000518557.1:p.Val335AlafsTer18
ENST00000402731.6:c.803_804del	ENSP00000384835.2:p.Val268AlafsTer5
ENST00000404276.6:c.1004_1005del MANE Select	ENSP00000385747.1:p.Val335AlafsTer5
ENST00000425190.7:c.341_342del	ENSP00000390244.2:p.Val114AlafsTer5
ENST00000464581.6:c.344_345del	ENSP00000483777.2:p.Val115AlafsTer5
ENST00000648295.1:n.556_557del
ENST00000649563.1:c.341_342del	ENSP00000496928.1:p.Val114AlafsTer5
ENST00000650281.1:c.1004_1005del	ENSP00000497000.1:p.Val335AlafsTer5
ENST00000328354.10:c.1004_1005del	ENSP00000329178.6:p.Val335AlafsTer5
ENST00000348295.7:c.1004_1005del	ENSP00000329012.5:p.Val335AlafsTer4
ENST00000382580.6:c.1133_1134del	ENSP00000372023.2:p.Val378AlafsTer5
ENST00000402731.5:c.1004_1005del	ENSP00000384835.1:p.Val335AlafsTer4
ENST00000403642.5:c.731_732del	ENSP00000384919.1:p.Val244AlafsTer5
ENST00000404276.5:c.1004_1005del	ENSP00000385747.1:p.Val335AlafsTer5
ENST00000405598.5:c.1004_1005del	ENSP00000386087.1:p.Val335AlafsTer5
ENST00000416671.5:c.*494_*495del	ENSP00000402225.1:n.*494_*495del
ENST00000417588.5:c.913_914del	ENSP00000412901.1:n.913_914del
ENST00000425190.6:c.341_342del	ENSP00000390244.1:p.Val114AlafsTer5
ENST00000433028.6:c.*729_*730del	ENSP00000403659.1:n.*729_*730del
ENST00000433728.5:c.942_943del	ENSP00000404400.1:n.942_943del
ENST00000434810.5:c.235_236del
ENST00000439346.5:c.475_476del	ENSP00000396903.1:n.475_476del
ENST00000447421.5:c.803_804del	ENSP00000397478.2:p.Val268AlafsTer5
ENST00000448511.5:c.894_895del	ENSP00000404567.1:n.894_895del
ENST00000456369.5:c.259_260del
ENST00000464581.5:c.344_345del	ENSP00000483777.1:p.Val115AlafsTer5
ENST00000491919.5:n.561_562del
NM_001005735.1:c.1133_1134del	NP_001005735.1:p.Val378AlafsTer5
NM_001257387.1:c.341_342del	NP_001244316.1:p.Val114AlafsTer5
NM_007194.3:c.1004_1005del	NP_009125.1:p.Val335AlafsTer5
NM_145862.2:c.1004_1005del	NP_665861.1:p.Val335AlafsTer4
XM_006724114.2:c.524_525del	XP_006724177.1:p.Val175AlafsTer5
XM_006724116.2:c.461_462del	XP_006724179.2:p.Val154AlafsTer5
XM_011529839.1:c.1163_1164del	XP_011528141.1:p.Val388AlafsTer5
XM_011529840.1:c.1163_1164del	XP_011528142.1:p.Val388AlafsTer4
XM_011529841.1:c.932_933del	XP_011528143.1:p.Val311AlafsTer5
XM_011529842.1:c.833_834del	XP_011528144.1:p.Val278AlafsTer5
XM_011529843.1:c.803_804del	XP_011528145.1:p.Val268AlafsTer5
XM_011529844.1:c.1163_1164del	XP_011528146.1:p.Val388AlafsTer28
XM_011529845.1:c.341_342del	XP_011528147.1:p.Val114AlafsTer5
XR_937805.1:n.1163_1164del
XR_937806.1:n.1158_1159del
XR_937807.1:n.1158_1159del
NM_001349956.1:c.803_804del	NP_001336885.1:p.Val268AlafsTer5
NM_007194.4:c.1004_1005del MANE Select	NP_009125.1:p.Val335AlafsTer5
XM_006724114.3:c.557_558del	XP_006724177.2:p.Val186AlafsTer5
XM_011529839.2:c.1163_1164del	XP_011528141.1:p.Val388AlafsTer5
XM_011529840.3:c.1163_1164del	XP_011528142.1:p.Val388AlafsTer4
XM_011529842.2:c.833_834del	XP_011528144.1:p.Val278AlafsTer5
XM_011529844.2:c.1163_1164del	XP_011528146.1:p.Val388AlafsTer28
XM_011529845.2:c.341_342del	XP_011528147.1:p.Val114AlafsTer5
XM_017028560.1:c.1127_1128del	XP_016884049.1:p.Val376AlafsTer5
XM_017028561.2:c.341_342del	XP_016884050.1:p.Val114AlafsTer5
XM_024452148.1:c.1034_1035del	XP_024307916.1:p.Val345AlafsTer5
XM_024452149.1:c.1034_1035del	XP_024307917.1:p.Val345AlafsTer4
XR_937805.2:n.1174_1175del
XR_937806.2:n.1174_1175del
XR_937807.2:n.1174_1175del
NM_001005735.2:c.1133_1134del	NP_001005735.1:p.Val378AlafsTer5
NM_001257387.2:c.341_342del	NP_001244316.1:p.Val114AlafsTer5
NM_001349956.2:c.803_804del	NP_001336885.1:p.Val268AlafsTer5