Canonical Allele Identifier: CA350343

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 219748
• ClinVar RCV Id: RCV001421981
• dbSNP Id: rs864622231
• MyVariant Identifiers: chr22:g.29095935A>C (hg19) ; chr22:g.28699947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699947A>C , CM000684.2:g.28699947A>C	GRCh38
NC_000022.10:g.29095935A>C , CM000684.1:g.29095935A>C	GRCh37
NC_000022.9:g.27425935A>C	NCBI36
NG_008150.1:g.46888T>G
NG_008150.2:g.46920T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.818-10T>G	ENSP00000396903.2:n.818-10T>G
ENST00000711048.1:c.909-10T>G	ENSP00000518557.1:n.909-10T>G
ENST00000402731.6:c.708-10T>G	ENSP00000384835.2:n.708-10T>G
ENST00000404276.6:c.909-10T>G MANE Select	ENSP00000385747.1:n.909-10T>G
ENST00000425190.7:c.246-10T>G	ENSP00000390244.2:n.246-10T>G
ENST00000464581.6:c.249-10T>G	ENSP00000483777.2:n.249-10T>G
ENST00000648295.1:n.461-10T>G
ENST00000649563.1:c.246-10T>G	ENSP00000496928.1:n.246-10T>G
ENST00000650281.1:c.909-10T>G	ENSP00000497000.1:n.909-10T>G
ENST00000328354.10:c.909-10T>G	ENSP00000329178.6:n.909-10T>G
ENST00000348295.7:c.909-10T>G	ENSP00000329012.5:n.909-10T>G
ENST00000382580.6:c.1038-10T>G	ENSP00000372023.2:n.1038-10T>G
ENST00000402731.5:c.909-10T>G	ENSP00000384835.1:n.909-10T>G
ENST00000403642.5:c.636-10T>G	ENSP00000384919.1:n.636-10T>G
ENST00000404276.5:c.909-10T>G	ENSP00000385747.1:n.909-10T>G
ENST00000405598.5:c.909-10T>G	ENSP00000386087.1:n.909-10T>G
ENST00000416671.5:c.*399-10T>G	ENSP00000402225.1:n.*399-10T>G
ENST00000417588.5:c.818-10T>G	ENSP00000412901.1:n.818-10T>G
ENST00000425190.6:c.246-10T>G	ENSP00000390244.1:n.246-10T>G
ENST00000433028.6:c.*634-10T>G	ENSP00000403659.1:n.*634-10T>G
ENST00000433728.5:c.847-10T>G	ENSP00000404400.1:n.847-10T>G
ENST00000434810.5:c.140-10T>G
ENST00000439346.5:c.380-10T>G	ENSP00000396903.1:n.380-10T>G
ENST00000447421.5:c.708-10T>G	ENSP00000397478.2:n.708-10T>G
ENST00000448511.5:c.799-10T>G	ENSP00000404567.1:n.799-10T>G
ENST00000456369.5:c.164-10T>G
ENST00000464581.5:c.249-10T>G	ENSP00000483777.1:n.249-10T>G
ENST00000491919.5:n.466-10T>G
NM_001005735.1:c.1038-10T>G	NP_001005735.1:n.1038-10T>G
NM_001257387.1:c.246-10T>G	NP_001244316.1:n.246-10T>G
NM_007194.3:c.909-10T>G	NP_009125.1:n.909-10T>G
NM_145862.2:c.909-10T>G	NP_665861.1:n.909-10T>G
XM_006724114.2:c.429-10T>G	XP_006724177.1:n.429-10T>G
XM_006724116.2:c.366-10T>G	XP_006724179.2:n.366-10T>G
XM_011529839.1:c.1068-10T>G	XP_011528141.1:n.1068-10T>G
XM_011529840.1:c.1068-10T>G	XP_011528142.1:n.1068-10T>G
XM_011529841.1:c.837-10T>G	XP_011528143.1:n.837-10T>G
XM_011529842.1:c.738-10T>G	XP_011528144.1:n.738-10T>G
XM_011529843.1:c.708-10T>G	XP_011528145.1:n.708-10T>G
XM_011529844.1:c.1068-10T>G	XP_011528146.1:n.1068-10T>G
XM_011529845.1:c.246-10T>G	XP_011528147.1:n.246-10T>G
XR_937805.1:n.1068-10T>G
XR_937806.1:n.1063-10T>G
XR_937807.1:n.1063-10T>G
NM_001349956.1:c.708-10T>G	NP_001336885.1:n.708-10T>G
NM_007194.4:c.909-10T>G MANE Select	NP_009125.1:n.909-10T>G
XM_006724114.3:c.462-10T>G	XP_006724177.2:n.462-10T>G
XM_011529839.2:c.1068-10T>G	XP_011528141.1:n.1068-10T>G
XM_011529840.3:c.1068-10T>G	XP_011528142.1:n.1068-10T>G
XM_011529842.2:c.738-10T>G	XP_011528144.1:n.738-10T>G
XM_011529844.2:c.1068-10T>G	XP_011528146.1:n.1068-10T>G
XM_011529845.2:c.246-10T>G	XP_011528147.1:n.246-10T>G
XM_017028560.1:c.1032-10T>G	XP_016884049.1:n.1032-10T>G
XM_017028561.2:c.246-10T>G	XP_016884050.1:n.246-10T>G
XM_024452148.1:c.939-10T>G	XP_024307916.1:n.939-10T>G
XM_024452149.1:c.939-10T>G	XP_024307917.1:n.939-10T>G
XR_937805.2:n.1079-10T>G
XR_937806.2:n.1079-10T>G
XR_937807.2:n.1079-10T>G
NM_001005735.2:c.1038-10T>G	NP_001005735.1:n.1038-10T>G
NM_001257387.2:c.246-10T>G	NP_001244316.1:n.246-10T>G
NM_001349956.2:c.708-10T>G	NP_001336885.1:n.708-10T>G