Canonical Allele Identifier: CA411100868

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 496347
• ClinVar RCV Id: RCV000589468 ; RCV001867911
• dbSNP Id: rs587781699
• MyVariant Identifiers: chr22:g.29099492C>G (hg19) ; chr22:g.28703504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28703504C>G , CM000684.2:g.28703504C>G	GRCh38
NC_000022.10:g.29099492C>G , CM000684.1:g.29099492C>G	GRCh37
NC_000022.9:g.27429492C>G	NCBI36
NG_008150.1:g.43331G>C
NG_008150.2:g.43363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.817+1G>C	ENSP00000396903.2:n.817+1G>C
ENST00000711048.1:c.908+1G>C	ENSP00000518557.1:n.908+1G>C
ENST00000402731.6:c.707+1G>C	ENSP00000384835.2:n.707+1G>C
ENST00000404276.6:c.908+1G>C MANE Select	ENSP00000385747.1:n.908+1G>C
ENST00000425190.7:c.245+1G>C	ENSP00000390244.2:n.245+1G>C
ENST00000464581.6:c.248+1G>C	ENSP00000483777.2:n.248+1G>C
ENST00000648295.1:n.460+1G>C
ENST00000649563.1:c.245+1G>C	ENSP00000496928.1:n.245+1G>C
ENST00000650281.1:c.908+1G>C	ENSP00000497000.1:n.908+1G>C
ENST00000328354.10:c.908+1G>C	ENSP00000329178.6:n.908+1G>C
ENST00000348295.7:c.908+1G>C	ENSP00000329012.5:n.908+1G>C
ENST00000382580.6:c.1037+1G>C	ENSP00000372023.2:n.1037+1G>C
ENST00000402731.5:c.908+1G>C	ENSP00000384835.1:n.908+1G>C
ENST00000403642.5:c.635+1G>C	ENSP00000384919.1:n.635+1G>C
ENST00000404276.5:c.908+1G>C	ENSP00000385747.1:n.908+1G>C
ENST00000405598.5:c.908+1G>C	ENSP00000386087.1:n.908+1G>C
ENST00000416671.5:c.*398+1G>C	ENSP00000402225.1:n.*398+1G>C
ENST00000417588.5:c.817+1G>C	ENSP00000412901.1:n.817+1G>C
ENST00000425190.6:c.245+1G>C	ENSP00000390244.1:n.245+1G>C
ENST00000433028.6:c.*633+1G>C	ENSP00000403659.1:n.*633+1G>C
ENST00000433728.5:c.847-3567G>C	ENSP00000404400.1:n.847-3567G>C
ENST00000434810.5:c.139+1G>C
ENST00000439346.5:c.379+1G>C	ENSP00000396903.1:n.379+1G>C
ENST00000447421.5:c.707+1G>C	ENSP00000397478.2:n.707+1G>C
ENST00000448511.5:c.798+1G>C	ENSP00000404567.1:n.798+1G>C
ENST00000456369.5:c.163+1G>C
ENST00000464581.5:c.248+1G>C	ENSP00000483777.1:n.248+1G>C
ENST00000491919.5:n.465+1G>C
NM_001005735.1:c.1037+1G>C	NP_001005735.1:n.1037+1G>C
NM_001257387.1:c.245+1G>C	NP_001244316.1:n.245+1G>C
NM_007194.3:c.908+1G>C	NP_009125.1:n.908+1G>C
NM_145862.2:c.908+1G>C	NP_665861.1:n.908+1G>C
XM_006724114.2:c.428+1G>C	XP_006724177.1:n.428+1G>C
XM_006724116.2:c.365+1G>C	XP_006724179.2:n.365+1G>C
XM_011529839.1:c.1067+1G>C	XP_011528141.1:n.1067+1G>C
XM_011529840.1:c.1067+1G>C	XP_011528142.1:n.1067+1G>C
XM_011529841.1:c.836+1G>C	XP_011528143.1:n.836+1G>C
XM_011529842.1:c.737+1G>C	XP_011528144.1:n.737+1G>C
XM_011529843.1:c.707+1G>C	XP_011528145.1:n.707+1G>C
XM_011529844.1:c.1067+1G>C	XP_011528146.1:n.1067+1G>C
XM_011529845.1:c.245+1G>C	XP_011528147.1:n.245+1G>C
XR_937805.1:n.1068-3567G>C
XR_937806.1:n.1063-3567G>C
XR_937807.1:n.1063-3567G>C
NM_001349956.1:c.707+1G>C	NP_001336885.1:n.707+1G>C
NM_007194.4:c.908+1G>C MANE Select	NP_009125.1:n.908+1G>C
XM_006724114.3:c.461+1G>C	XP_006724177.2:n.461+1G>C
XM_011529839.2:c.1067+1G>C	XP_011528141.1:n.1067+1G>C
XM_011529840.3:c.1067+1G>C	XP_011528142.1:n.1067+1G>C
XM_011529842.2:c.737+1G>C	XP_011528144.1:n.737+1G>C
XM_011529844.2:c.1067+1G>C	XP_011528146.1:n.1067+1G>C
XM_011529845.2:c.245+1G>C	XP_011528147.1:n.245+1G>C
XM_017028560.1:c.1031+1G>C	XP_016884049.1:n.1031+1G>C
XM_017028561.2:c.245+1G>C	XP_016884050.1:n.245+1G>C
XM_024452148.1:c.938+1G>C	XP_024307916.1:n.938+1G>C
XM_024452149.1:c.938+1G>C	XP_024307917.1:n.938+1G>C
XR_937805.2:n.1079-3567G>C
XR_937806.2:n.1079-3567G>C
XR_937807.2:n.1079-3567G>C
NM_001005735.2:c.1037+1G>C	NP_001005735.1:n.1037+1G>C
NM_001257387.2:c.245+1G>C	NP_001244316.1:n.245+1G>C
NM_001349956.2:c.707+1G>C	NP_001336885.1:n.707+1G>C