Canonical Allele Identifier: CA411099231

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460771
• ClinVar RCV Id: RCV000556065 ; RCV000570557
• dbSNP Id: rs1555915298
• MyVariant Identifiers: chr22:g.29095825C>A (hg19) ; chr22:g.28699837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699837C>A , CM000684.2:g.28699837C>A	GRCh38
NC_000022.10:g.29095825C>A , CM000684.1:g.29095825C>A	GRCh37
NC_000022.9:g.27425825C>A	NCBI36
NG_008150.1:g.46998G>T
NG_008150.2:g.47030G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.918G>T	ENSP00000396903.2:n.918G>T
ENST00000711048.1:c.1008+1G>T	ENSP00000518557.1:n.1008+1G>T
ENST00000402731.6:c.807+1G>T	ENSP00000384835.2:n.807+1G>T
ENST00000404276.6:c.1008+1G>T MANE Select	ENSP00000385747.1:n.1008+1G>T
ENST00000425190.7:c.345+1G>T	ENSP00000390244.2:n.345+1G>T
ENST00000464581.6:c.348+1G>T	ENSP00000483777.2:n.348+1G>T
ENST00000648295.1:n.560+1G>T
ENST00000649563.1:c.345+1G>T	ENSP00000496928.1:n.345+1G>T
ENST00000650281.1:c.1008+1G>T	ENSP00000497000.1:n.1008+1G>T
ENST00000328354.10:c.1008+1G>T	ENSP00000329178.6:n.1008+1G>T
ENST00000348295.7:c.1008+1G>T	ENSP00000329012.5:n.1008+1G>T
ENST00000382580.6:c.1137+1G>T	ENSP00000372023.2:n.1137+1G>T
ENST00000402731.5:c.1008+1G>T	ENSP00000384835.1:n.1008+1G>T
ENST00000403642.5:c.735+1G>T	ENSP00000384919.1:n.735+1G>T
ENST00000404276.5:c.1008+1G>T	ENSP00000385747.1:n.1008+1G>T
ENST00000405598.5:c.1008+1G>T	ENSP00000386087.1:n.1008+1G>T
ENST00000416671.5:c.*498+1G>T	ENSP00000402225.1:n.*498+1G>T
ENST00000417588.5:c.917+1G>T	ENSP00000412901.1:n.917+1G>T
ENST00000425190.6:c.345+1G>T	ENSP00000390244.1:n.345+1G>T
ENST00000433028.6:c.*733+1G>T	ENSP00000403659.1:n.*733+1G>T
ENST00000433728.5:c.946+1G>T	ENSP00000404400.1:n.946+1G>T
ENST00000434810.5:c.239+1G>T
ENST00000439346.5:c.480G>T	ENSP00000396903.1:n.480G>T
ENST00000447421.5:c.807+1G>T	ENSP00000397478.2:n.807+1G>T
ENST00000448511.5:c.898+1G>T	ENSP00000404567.1:n.898+1G>T
ENST00000456369.5:c.263+1G>T
ENST00000464581.5:c.348+1G>T	ENSP00000483777.1:n.348+1G>T
ENST00000491919.5:n.565+1G>T
NM_001005735.1:c.1137+1G>T	NP_001005735.1:n.1137+1G>T
NM_001257387.1:c.345+1G>T	NP_001244316.1:n.345+1G>T
NM_007194.3:c.1008+1G>T	NP_009125.1:n.1008+1G>T
NM_145862.2:c.1008+1G>T	NP_665861.1:n.1008+1G>T
XM_006724114.2:c.528+1G>T	XP_006724177.1:n.528+1G>T
XM_006724116.2:c.465+1G>T	XP_006724179.2:n.465+1G>T
XM_011529839.1:c.1167+1G>T	XP_011528141.1:n.1167+1G>T
XM_011529840.1:c.1167+1G>T	XP_011528142.1:n.1167+1G>T
XM_011529841.1:c.936+1G>T	XP_011528143.1:n.936+1G>T
XM_011529842.1:c.837+1G>T	XP_011528144.1:n.837+1G>T
XM_011529843.1:c.807+1G>T	XP_011528145.1:n.807+1G>T
XM_011529844.1:c.1167+1G>T	XP_011528146.1:n.1167+1G>T
XM_011529845.1:c.345+1G>T	XP_011528147.1:n.345+1G>T
XR_937805.1:n.1167+1G>T
XR_937806.1:n.1162+1G>T
XR_937807.1:n.1162+1G>T
NM_001349956.1:c.807+1G>T	NP_001336885.1:n.807+1G>T
NM_007194.4:c.1008+1G>T MANE Select	NP_009125.1:n.1008+1G>T
XM_006724114.3:c.561+1G>T	XP_006724177.2:n.561+1G>T
XM_011529839.2:c.1167+1G>T	XP_011528141.1:n.1167+1G>T
XM_011529840.3:c.1167+1G>T	XP_011528142.1:n.1167+1G>T
XM_011529842.2:c.837+1G>T	XP_011528144.1:n.837+1G>T
XM_011529844.2:c.1167+1G>T	XP_011528146.1:n.1167+1G>T
XM_011529845.2:c.345+1G>T	XP_011528147.1:n.345+1G>T
XM_017028560.1:c.1131+1G>T	XP_016884049.1:n.1131+1G>T
XM_017028561.2:c.345+1G>T	XP_016884050.1:n.345+1G>T
XM_024452148.1:c.1038+1G>T	XP_024307916.1:n.1038+1G>T
XM_024452149.1:c.1038+1G>T	XP_024307917.1:n.1038+1G>T
XR_937805.2:n.1178+1G>T
XR_937806.2:n.1178+1G>T
XR_937807.2:n.1178+1G>T
NM_001005735.2:c.1137+1G>T	NP_001005735.1:n.1137+1G>T
NM_001257387.2:c.345+1G>T	NP_001244316.1:n.345+1G>T
NM_001349956.2:c.807+1G>T	NP_001336885.1:n.807+1G>T