Canonical Allele Identifier: CA16616586

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 410034
• ClinVar RCV Id: RCV000476147 ; RCV000775770
• dbSNP Id: rs778573074
• MyVariant Identifiers: chr22:g.29095894C>A (hg19) ; chr22:g.28699906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699906C>A , CM000684.2:g.28699906C>A	GRCh38
NC_000022.10:g.29095894C>A , CM000684.1:g.29095894C>A	GRCh37
NC_000022.9:g.27425894C>A	NCBI36
NG_008150.1:g.46929G>T
NG_008150.2:g.46961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.849G>T	ENSP00000396903.2:n.849G>T
ENST00000711048.1:c.940G>T	ENSP00000518557.1:p.Val314Leu
ENST00000402731.6:c.739G>T	ENSP00000384835.2:p.Val247Leu
ENST00000404276.6:c.940G>T MANE Select	ENSP00000385747.1:p.Val314Leu
ENST00000425190.7:c.277G>T	ENSP00000390244.2:p.Val93Leu
ENST00000464581.6:c.280G>T	ENSP00000483777.2:p.Val94Leu
ENST00000648295.1:n.492G>T
ENST00000649563.1:c.277G>T	ENSP00000496928.1:p.Val93Leu
ENST00000650281.1:c.940G>T	ENSP00000497000.1:p.Val314Leu
ENST00000328354.10:c.940G>T	ENSP00000329178.6:p.Val314Leu
ENST00000348295.7:c.940G>T	ENSP00000329012.5:p.Val314Leu
ENST00000382580.6:c.1069G>T	ENSP00000372023.2:p.Val357Leu
ENST00000402731.5:c.940G>T	ENSP00000384835.1:p.Val314Leu
ENST00000403642.5:c.667G>T	ENSP00000384919.1:p.Val223Leu
ENST00000404276.5:c.940G>T	ENSP00000385747.1:p.Val314Leu
ENST00000405598.5:c.940G>T	ENSP00000386087.1:p.Val314Leu
ENST00000416671.5:c.*430G>T	ENSP00000402225.1:n.*430G>T
ENST00000417588.5:c.849G>T	ENSP00000412901.1:n.849G>T
ENST00000425190.6:c.277G>T	ENSP00000390244.1:p.Val93Leu
ENST00000433028.6:c.*665G>T	ENSP00000403659.1:n.*665G>T
ENST00000433728.5:c.878G>T	ENSP00000404400.1:n.878G>T
ENST00000434810.5:c.171G>T
ENST00000439346.5:c.411G>T	ENSP00000396903.1:n.411G>T
ENST00000447421.5:c.739G>T	ENSP00000397478.2:p.Val247Leu
ENST00000448511.5:c.830G>T	ENSP00000404567.1:n.830G>T
ENST00000456369.5:c.195G>T
ENST00000464581.5:c.280G>T	ENSP00000483777.1:p.Val94Leu
ENST00000491919.5:n.497G>T
NM_001005735.1:c.1069G>T	NP_001005735.1:p.Val357Leu
NM_001257387.1:c.277G>T	NP_001244316.1:p.Val93Leu
NM_007194.3:c.940G>T	NP_009125.1:p.Val314Leu
NM_145862.2:c.940G>T	NP_665861.1:p.Val314Leu
XM_006724114.2:c.460G>T	XP_006724177.1:p.Val154Leu
XM_006724116.2:c.397G>T	XP_006724179.2:p.Val133Leu
XM_011529839.1:c.1099G>T	XP_011528141.1:p.Val367Leu
XM_011529840.1:c.1099G>T	XP_011528142.1:p.Val367Leu
XM_011529841.1:c.868G>T	XP_011528143.1:p.Val290Leu
XM_011529842.1:c.769G>T	XP_011528144.1:p.Val257Leu
XM_011529843.1:c.739G>T	XP_011528145.1:p.Val247Leu
XM_011529844.1:c.1099G>T	XP_011528146.1:p.Val367Leu
XM_011529845.1:c.277G>T	XP_011528147.1:p.Val93Leu
XR_937805.1:n.1099G>T
XR_937806.1:n.1094G>T
XR_937807.1:n.1094G>T
NM_001349956.1:c.739G>T	NP_001336885.1:p.Val247Leu
NM_007194.4:c.940G>T MANE Select	NP_009125.1:p.Val314Leu
XM_006724114.3:c.493G>T	XP_006724177.2:p.Val165Leu
XM_011529839.2:c.1099G>T	XP_011528141.1:p.Val367Leu
XM_011529840.3:c.1099G>T	XP_011528142.1:p.Val367Leu
XM_011529842.2:c.769G>T	XP_011528144.1:p.Val257Leu
XM_011529844.2:c.1099G>T	XP_011528146.1:p.Val367Leu
XM_011529845.2:c.277G>T	XP_011528147.1:p.Val93Leu
XM_017028560.1:c.1063G>T	XP_016884049.1:p.Val355Leu
XM_017028561.2:c.277G>T	XP_016884050.1:p.Val93Leu
XM_024452148.1:c.970G>T	XP_024307916.1:p.Val324Leu
XM_024452149.1:c.970G>T	XP_024307917.1:p.Val324Leu
XR_937805.2:n.1110G>T
XR_937806.2:n.1110G>T
XR_937807.2:n.1110G>T
NM_001005735.2:c.1069G>T	NP_001005735.1:p.Val357Leu
NM_001257387.2:c.277G>T	NP_001244316.1:p.Val93Leu
NM_001349956.2:c.739G>T	NP_001336885.1:p.Val247Leu