Canonical Allele Identifier: CA2573158020

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1438612
• ClinVar RCV Id: RCV001949025
• dbSNP Id: rs2145841388

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699840_28699850del , CM000684.2:g.28699840_28699850del	GRCh38
NC_000022.10:g.29095828_29095838del , CM000684.1:g.29095828_29095838del	GRCh37
NC_000022.9:g.27425828_27425838del	NCBI36
NG_008150.1:g.46985_46995del
NG_008150.2:g.47017_47027del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.905_915del	ENSP00000396903.2:n.905_915del
ENST00000711048.1:c.996_1006del	ENSP00000518557.1:p.Leu333AlafsTer17
ENST00000402731.6:c.795_805del	ENSP00000384835.2:p.Leu266ValfsTer4
ENST00000404276.6:c.996_1006del MANE Select	ENSP00000385747.1:p.Leu333ValfsTer4
ENST00000425190.7:c.333_343del	ENSP00000390244.2:p.Leu112ValfsTer4
ENST00000464581.6:c.336_346del	ENSP00000483777.2:p.Leu113ValfsTer4
ENST00000648295.1:n.548_558del
ENST00000649563.1:c.333_343del	ENSP00000496928.1:p.Leu112ValfsTer4
ENST00000650281.1:c.996_1006del	ENSP00000497000.1:p.Leu333ValfsTer4
ENST00000328354.10:c.996_1006del	ENSP00000329178.6:p.Leu333ValfsTer4
ENST00000348295.7:c.996_1006del	ENSP00000329012.5:p.Leu333AspfsTer3
ENST00000382580.6:c.1125_1135del	ENSP00000372023.2:p.Leu376ValfsTer4
ENST00000402731.5:c.996_1006del	ENSP00000384835.1:p.Leu333AspfsTer3
ENST00000403642.5:c.723_733del	ENSP00000384919.1:p.Leu242ValfsTer4
ENST00000404276.5:c.996_1006del	ENSP00000385747.1:p.Leu333ValfsTer4
ENST00000405598.5:c.996_1006del	ENSP00000386087.1:p.Leu333ValfsTer4
ENST00000416671.5:c.*486_*496del	ENSP00000402225.1:n.*486_*496del
ENST00000417588.5:c.905_915del	ENSP00000412901.1:n.905_915del
ENST00000425190.6:c.333_343del	ENSP00000390244.1:p.Leu112ValfsTer4
ENST00000433028.6:c.*721_*731del	ENSP00000403659.1:n.*721_*731del
ENST00000433728.5:c.934_944del	ENSP00000404400.1:n.934_944del
ENST00000434810.5:c.227_237del
ENST00000439346.5:c.467_477del	ENSP00000396903.1:n.467_477del
ENST00000447421.5:c.795_805del	ENSP00000397478.2:p.Leu266ValfsTer4
ENST00000448511.5:c.886_896del	ENSP00000404567.1:n.886_896del
ENST00000456369.5:c.251_261del
ENST00000464581.5:c.336_346del	ENSP00000483777.1:p.Leu113ValfsTer4
ENST00000491919.5:n.553_563del
NM_001005735.1:c.1125_1135del	NP_001005735.1:p.Leu376ValfsTer4
NM_001257387.1:c.333_343del	NP_001244316.1:p.Leu112ValfsTer4
NM_007194.3:c.996_1006del	NP_009125.1:p.Leu333ValfsTer4
NM_145862.2:c.996_1006del	NP_665861.1:p.Leu333AspfsTer3
XM_006724114.2:c.516_526del	XP_006724177.1:p.Leu173ValfsTer4
XM_006724116.2:c.453_463del	XP_006724179.2:p.Leu152ValfsTer4
XM_011529839.1:c.1155_1165del	XP_011528141.1:p.Leu386ValfsTer4
XM_011529840.1:c.1155_1165del	XP_011528142.1:p.Leu386AspfsTer3
XM_011529841.1:c.924_934del	XP_011528143.1:p.Leu309ValfsTer4
XM_011529842.1:c.825_835del	XP_011528144.1:p.Leu276ValfsTer4
XM_011529843.1:c.795_805del	XP_011528145.1:p.Leu266ValfsTer4
XM_011529844.1:c.1155_1165del	XP_011528146.1:p.Leu386ValfsTer27
XM_011529845.1:c.333_343del	XP_011528147.1:p.Leu112ValfsTer4
XR_937805.1:n.1155_1165del
XR_937806.1:n.1150_1160del
XR_937807.1:n.1150_1160del
NM_001349956.1:c.795_805del	NP_001336885.1:p.Leu266ValfsTer4
NM_007194.4:c.996_1006del MANE Select	NP_009125.1:p.Leu333ValfsTer4
XM_006724114.3:c.549_559del	XP_006724177.2:p.Leu184ValfsTer4
XM_011529839.2:c.1155_1165del	XP_011528141.1:p.Leu386ValfsTer4
XM_011529840.3:c.1155_1165del	XP_011528142.1:p.Leu386AspfsTer3
XM_011529842.2:c.825_835del	XP_011528144.1:p.Leu276ValfsTer4
XM_011529844.2:c.1155_1165del	XP_011528146.1:p.Leu386ValfsTer27
XM_011529845.2:c.333_343del	XP_011528147.1:p.Leu112ValfsTer4
XM_017028560.1:c.1119_1129del	XP_016884049.1:p.Leu374ValfsTer4
XM_017028561.2:c.333_343del	XP_016884050.1:p.Leu112ValfsTer4
XM_024452148.1:c.1026_1036del	XP_024307916.1:p.Leu343ValfsTer4
XM_024452149.1:c.1026_1036del	XP_024307917.1:p.Leu343AspfsTer3
XR_937805.2:n.1166_1176del
XR_937806.2:n.1166_1176del
XR_937807.2:n.1166_1176del
NM_001005735.2:c.1125_1135del	NP_001005735.1:p.Leu376ValfsTer4
NM_001257387.2:c.333_343del	NP_001244316.1:p.Leu112ValfsTer4
NM_001349956.2:c.795_805del	NP_001336885.1:p.Leu266ValfsTer4