Canonical Allele Identifier: CA2499226086

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1048945
• ClinVar RCV Id: RCV001354390
• dbSNP Id: rs2146056182

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724974_28725249del , CM000684.2:g.28724974_28725249del	GRCh38
NC_000022.10:g.29120962_29121237del , CM000684.1:g.29120962_29121237del	GRCh37
NC_000022.9:g.27450962_27451237del	NCBI36
NG_008150.1:g.21586_21861del
NG_008150.2:g.21618_21893del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.438_592+3del
ENST00000454252.2:c.*418_*575del
ENST00000711048.1:c.438_592+3del
ENST00000402731.6:c.438_445-51del
ENST00000404276.6:c.438_592+3del
ENST00000425190.7:c.-226_-72+3del
ENST00000649563.1:c.-71-5764_-71-5489del	ENSP00000496928.1:n.-71-5764_-71-5489del
ENST00000650281.1:c.438_592+3del
ENST00000328354.10:c.438_592+3del
ENST00000348295.7:c.438_592+3del
ENST00000382565.5:c.438_592+3del
ENST00000382580.6:c.567_721+3del
ENST00000402731.5:c.438_592+3del
ENST00000403642.5:c.320-5764_320-5489del	ENSP00000384919.1:n.320-5764_320-5489del
ENST00000404276.5:c.438_592+3del
ENST00000405598.5:c.438_592+3del
ENST00000416671.5:c.438_592+3del
ENST00000417588.5:c.438_592+3del
ENST00000425190.6:c.-226_-72+3del
ENST00000433028.6:c.438_445-51del
ENST00000433728.5:c.438_592+3del
ENST00000439200.5:c.531_685+3del
ENST00000447421.5:c.438_445-51del
ENST00000448511.5:c.438_445-51del
ENST00000454252.1:c.556_713del
NM_001005735.1:c.567_721+3del
NM_001257387.1:c.-340_-186+3del
NM_007194.3:c.438_592+3del
NM_145862.2:c.438_592+3del
XM_011529839.1:c.597_751+3del
XM_011529840.1:c.597_751+3del
XM_011529841.1:c.567_574-51del
XM_011529842.1:c.468_475-51del
XM_011529843.1:c.438_445-51del
XM_011529844.1:c.597_751+3del
XM_011529845.1:c.-226_-72+3del
XR_937805.1:n.659_813+3del
XR_937806.1:n.654_808+3del
XR_937807.1:n.654_808+3del
NM_001349956.1:c.438_445-51del
NM_007194.4:c.438_592+3del
XM_011529839.2:c.597_751+3del
XM_011529840.3:c.597_751+3del
XM_011529842.2:c.468_475-51del
XM_011529844.2:c.597_751+3del
XM_011529845.2:c.-226_-72+3del
XM_017028560.1:c.561_715+3del
XM_024452148.1:c.468_622+3del
XM_024452149.1:c.468_622+3del
XR_937805.2:n.670_824+3del
XR_937806.2:n.670_824+3del
XR_937807.2:n.670_824+3del
NM_001005735.2:c.567_721+3del
NM_001257387.2:c.-340_-186+3del
NM_001349956.2:c.438_445-51del