Canonical Allele Identifier: CA2580099401

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1728822
• ClinVar RCV Id: RCV002443358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724661_28727169dup , CM000684.2:g.28724661_28727169dup	GRCh38
NC_000022.10:g.29120649_29123157dup , CM000684.1:g.29120649_29123157dup	GRCh37
NC_000022.9:g.27450649_27453157dup	NCBI36
NG_008150.1:g.19667_22175dup
NG_008150.2:g.19699_22207dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.320-1801_592+317dup
ENST00000711048.1:c.320-1801_592+317dup
ENST00000402731.6:c.320-1801_482+226dup
ENST00000404276.6:c.320-1801_592+317dup
ENST00000425190.7:c.-344-1801_-72+317dup
ENST00000649563.1:c.-71-7683_-71-5175dup	ENSP00000496928.1:n.-71-7683_-71-5175dup
ENST00000650281.1:c.320-1801_592+317dup
ENST00000328354.10:c.320-1801_592+317dup
ENST00000348295.7:c.320-1801_592+317dup
ENST00000382565.5:c.320-1801_592+317dup
ENST00000382580.6:c.449-1801_721+317dup
ENST00000402731.5:c.320-1801_592+317dup
ENST00000403642.5:c.319+7235_320-5175dup	ENSP00000384919.1:n.319+7235_320-5175dup
ENST00000404276.5:c.320-1801_592+317dup
ENST00000405598.5:c.320-1801_592+317dup
ENST00000416671.5:c.320-1801_592+317dup
ENST00000417588.5:c.320-1801_592+317dup
ENST00000425190.6:c.-344-1801_-72+317dup
ENST00000433028.6:c.320-1801_*222dup
ENST00000433728.5:c.320-1801_592+317dup
ENST00000439200.5:c.413-1801_685+317dup
ENST00000447421.5:c.320-1801_482+226dup
ENST00000448511.5:c.320-1801_482+226dup
NM_001005735.1:c.449-1801_721+317dup
NM_001257387.1:c.-458-1801_-186+317dup
NM_007194.3:c.320-1801_592+317dup
NM_145862.2:c.320-1801_592+317dup
XM_011529839.1:c.479-1801_751+317dup
XM_011529840.1:c.479-1801_751+317dup
XM_011529841.1:c.449-1801_611+226dup
XM_011529842.1:c.350-1801_512+226dup
XM_011529843.1:c.320-1801_482+226dup
XM_011529844.1:c.479-1801_751+317dup
XM_011529845.1:c.-344-1801_-72+317dup
XR_937805.1:n.541-1801_813+317dup
XR_937806.1:n.536-1801_808+317dup
XR_937807.1:n.536-1801_808+317dup
NM_001349956.1:c.320-1801_482+226dup
NM_007194.4:c.320-1801_592+317dup
XM_011529839.2:c.479-1801_751+317dup
XM_011529840.3:c.479-1801_751+317dup
XM_011529842.2:c.350-1801_512+226dup
XM_011529844.2:c.479-1801_751+317dup
XM_011529845.2:c.-344-1801_-72+317dup
XM_017028560.1:c.443-1801_715+317dup
XM_024452148.1:c.350-1801_622+317dup
XM_024452149.1:c.350-1801_622+317dup
XR_937805.2:n.552-1801_824+317dup
XR_937806.2:n.552-1801_824+317dup
XR_937807.2:n.552-1801_824+317dup
NM_001005735.2:c.449-1801_721+317dup
NM_001257387.2:c.-458-1801_-186+317dup
NM_001349956.2:c.320-1801_482+226dup