Canonical Allele Identifier: CA2582342817

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2583463
• ClinVar RCV Id: RCV003337134

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699868_28699871del , CM000684.2:g.28699868_28699871del	GRCh38
NC_000022.10:g.29095856_29095859del , CM000684.1:g.29095856_29095859del	GRCh37
NC_000022.9:g.27425856_27425859del	NCBI36
NG_008150.1:g.46964_46967del
NG_008150.2:g.46996_46999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.884_887del	ENSP00000396903.2:n.884_887del
ENST00000711048.1:c.975_978del	ENSP00000518557.1:p.Lys325AsnfsTer?
ENST00000402731.6:c.774_777del	ENSP00000384835.2:p.Lys258AsnfsTer23
ENST00000404276.6:c.975_978del MANE Select	ENSP00000385747.1:p.Lys325AsnfsTer23
ENST00000425190.7:c.312_315del	ENSP00000390244.2:p.Lys104AsnfsTer23
ENST00000464581.6:c.315_318del	ENSP00000483777.2:p.Lys105AsnfsTer23
ENST00000648295.1:n.527_530del
ENST00000649563.1:c.312_315del	ENSP00000496928.1:p.Lys104AsnfsTer23
ENST00000650281.1:c.975_978del	ENSP00000497000.1:p.Lys325AsnfsTer23
ENST00000328354.10:c.975_978del	ENSP00000329178.6:p.Lys325AsnfsTer23
ENST00000348295.7:c.975_978del	ENSP00000329012.5:p.Lys325AsnfsTer27
ENST00000382580.6:c.1104_1107del	ENSP00000372023.2:p.Lys368AsnfsTer23
ENST00000402731.5:c.975_978del	ENSP00000384835.1:p.Lys325AsnfsTer27
ENST00000403642.5:c.702_705del	ENSP00000384919.1:p.Lys234AsnfsTer23
ENST00000404276.5:c.975_978del	ENSP00000385747.1:p.Lys325AsnfsTer23
ENST00000405598.5:c.975_978del	ENSP00000386087.1:p.Lys325AsnfsTer23
ENST00000416671.5:c.*465_*468del	ENSP00000402225.1:n.*465_*468del
ENST00000417588.5:c.884_887del	ENSP00000412901.1:n.884_887del
ENST00000425190.6:c.312_315del	ENSP00000390244.1:p.Lys104AsnfsTer?
ENST00000433028.6:c.*700_*703del	ENSP00000403659.1:n.*700_*703del
ENST00000433728.5:c.913_916del	ENSP00000404400.1:n.913_916del
ENST00000434810.5:c.206_209del
ENST00000439346.5:c.446_449del	ENSP00000396903.1:n.446_449del
ENST00000447421.5:c.774_777del	ENSP00000397478.2:p.Lys258AsnfsTer23
ENST00000448511.5:c.865_868del	ENSP00000404567.1:n.865_868del
ENST00000456369.5:c.230_233del
ENST00000464581.5:c.315_318del	ENSP00000483777.1:p.Lys105AsnfsTer23
ENST00000491919.5:n.532_535del
NM_001005735.1:c.1104_1107del	NP_001005735.1:p.Lys368AsnfsTer23
NM_001257387.1:c.312_315del	NP_001244316.1:p.Lys104AsnfsTer23
NM_007194.3:c.975_978del	NP_009125.1:p.Lys325AsnfsTer23
NM_145862.2:c.975_978del	NP_665861.1:p.Lys325AsnfsTer27
XM_006724114.2:c.495_498del	XP_006724177.1:p.Lys165AsnfsTer23
XM_006724116.2:c.432_435del	XP_006724179.2:p.Lys144AsnfsTer23
XM_011529839.1:c.1134_1137del	XP_011528141.1:p.Lys378AsnfsTer23
XM_011529840.1:c.1134_1137del	XP_011528142.1:p.Lys378AsnfsTer27
XM_011529841.1:c.903_906del	XP_011528143.1:p.Lys301AsnfsTer23
XM_011529842.1:c.804_807del	XP_011528144.1:p.Lys268AsnfsTer23
XM_011529843.1:c.774_777del	XP_011528145.1:p.Lys258AsnfsTer23
XM_011529844.1:c.1134_1137del	XP_011528146.1:p.Lys378AsnfsTer14
XM_011529845.1:c.312_315del	XP_011528147.1:p.Lys104AsnfsTer23
XR_937805.1:n.1134_1137del
XR_937806.1:n.1129_1132del
XR_937807.1:n.1129_1132del
NM_001349956.1:c.774_777del	NP_001336885.1:p.Lys258AsnfsTer23
NM_007194.4:c.975_978del MANE Select	NP_009125.1:p.Lys325AsnfsTer23
XM_006724114.3:c.528_531del	XP_006724177.2:p.Lys176AsnfsTer23
XM_011529839.2:c.1134_1137del	XP_011528141.1:p.Lys378AsnfsTer23
XM_011529840.3:c.1134_1137del	XP_011528142.1:p.Lys378AsnfsTer27
XM_011529842.2:c.804_807del	XP_011528144.1:p.Lys268AsnfsTer23
XM_011529844.2:c.1134_1137del	XP_011528146.1:p.Lys378AsnfsTer14
XM_011529845.2:c.312_315del	XP_011528147.1:p.Lys104AsnfsTer23
XM_017028560.1:c.1098_1101del	XP_016884049.1:p.Lys366AsnfsTer23
XM_017028561.2:c.312_315del	XP_016884050.1:p.Lys104AsnfsTer23
XM_024452148.1:c.1005_1008del	XP_024307916.1:p.Lys335AsnfsTer23
XM_024452149.1:c.1005_1008del	XP_024307917.1:p.Lys335AsnfsTer27
XR_937805.2:n.1145_1148del
XR_937806.2:n.1145_1148del
XR_937807.2:n.1145_1148del
NM_001005735.2:c.1104_1107del	NP_001005735.1:p.Lys368AsnfsTer23
NM_001257387.2:c.312_315del	NP_001244316.1:p.Lys104AsnfsTer23
NM_001349956.2:c.774_777del	NP_001336885.1:p.Lys258AsnfsTer23