Canonical Allele Identifier: CA411099437

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 530146
• ClinVar RCV Id: RCV000635828 ; RCV002386016
• dbSNP Id: rs1555915348
• MyVariant Identifiers: chr22:g.29095840G>C (hg19) ; chr22:g.28699852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699852G>C , CM000684.2:g.28699852G>C	GRCh38
NC_000022.10:g.29095840G>C , CM000684.1:g.29095840G>C	GRCh37
NC_000022.9:g.27425840G>C	NCBI36
NG_008150.1:g.46983C>G
NG_008150.2:g.47015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.903C>G	ENSP00000396903.2:n.903C>G
ENST00000711048.1:c.994C>G	ENSP00000518557.1:p.Leu332Val
ENST00000402731.6:c.793C>G	ENSP00000384835.2:p.Leu265Val
ENST00000404276.6:c.994C>G MANE Select	ENSP00000385747.1:p.Leu332Val
ENST00000425190.7:c.331C>G	ENSP00000390244.2:p.Leu111Val
ENST00000464581.6:c.334C>G	ENSP00000483777.2:p.Leu112Val
ENST00000648295.1:n.546C>G
ENST00000649563.1:c.331C>G	ENSP00000496928.1:p.Leu111Val
ENST00000650281.1:c.994C>G	ENSP00000497000.1:p.Leu332Val
ENST00000328354.10:c.994C>G	ENSP00000329178.6:p.Leu332Val
ENST00000348295.7:c.994C>G	ENSP00000329012.5:p.Leu332Val
ENST00000382580.6:c.1123C>G	ENSP00000372023.2:p.Leu375Val
ENST00000402731.5:c.994C>G	ENSP00000384835.1:p.Leu332Val
ENST00000403642.5:c.721C>G	ENSP00000384919.1:p.Leu241Val
ENST00000404276.5:c.994C>G	ENSP00000385747.1:p.Leu332Val
ENST00000405598.5:c.994C>G	ENSP00000386087.1:p.Leu332Val
ENST00000416671.5:c.*484C>G	ENSP00000402225.1:n.*484C>G
ENST00000417588.5:c.903C>G	ENSP00000412901.1:n.903C>G
ENST00000425190.6:c.331C>G	ENSP00000390244.1:p.Leu111Val
ENST00000433028.6:c.*719C>G	ENSP00000403659.1:n.*719C>G
ENST00000433728.5:c.932C>G	ENSP00000404400.1:n.932C>G
ENST00000434810.5:c.225C>G
ENST00000439346.5:c.465C>G	ENSP00000396903.1:n.465C>G
ENST00000447421.5:c.793C>G	ENSP00000397478.2:p.Leu265Val
ENST00000448511.5:c.884C>G	ENSP00000404567.1:n.884C>G
ENST00000456369.5:c.249C>G
ENST00000464581.5:c.334C>G	ENSP00000483777.1:p.Leu112Val
ENST00000491919.5:n.551C>G
NM_001005735.1:c.1123C>G	NP_001005735.1:p.Leu375Val
NM_001257387.1:c.331C>G	NP_001244316.1:p.Leu111Val
NM_007194.3:c.994C>G	NP_009125.1:p.Leu332Val
NM_145862.2:c.994C>G	NP_665861.1:p.Leu332Val
XM_006724114.2:c.514C>G	XP_006724177.1:p.Leu172Val
XM_006724116.2:c.451C>G	XP_006724179.2:p.Leu151Val
XM_011529839.1:c.1153C>G	XP_011528141.1:p.Leu385Val
XM_011529840.1:c.1153C>G	XP_011528142.1:p.Leu385Val
XM_011529841.1:c.922C>G	XP_011528143.1:p.Leu308Val
XM_011529842.1:c.823C>G	XP_011528144.1:p.Leu275Val
XM_011529843.1:c.793C>G	XP_011528145.1:p.Leu265Val
XM_011529844.1:c.1153C>G	XP_011528146.1:p.Leu385Val
XM_011529845.1:c.331C>G	XP_011528147.1:p.Leu111Val
XR_937805.1:n.1153C>G
XR_937806.1:n.1148C>G
XR_937807.1:n.1148C>G
NM_001349956.1:c.793C>G	NP_001336885.1:p.Leu265Val
NM_007194.4:c.994C>G MANE Select	NP_009125.1:p.Leu332Val
XM_006724114.3:c.547C>G	XP_006724177.2:p.Leu183Val
XM_011529839.2:c.1153C>G	XP_011528141.1:p.Leu385Val
XM_011529840.3:c.1153C>G	XP_011528142.1:p.Leu385Val
XM_011529842.2:c.823C>G	XP_011528144.1:p.Leu275Val
XM_011529844.2:c.1153C>G	XP_011528146.1:p.Leu385Val
XM_011529845.2:c.331C>G	XP_011528147.1:p.Leu111Val
XM_017028560.1:c.1117C>G	XP_016884049.1:p.Leu373Val
XM_017028561.2:c.331C>G	XP_016884050.1:p.Leu111Val
XM_024452148.1:c.1024C>G	XP_024307916.1:p.Leu342Val
XM_024452149.1:c.1024C>G	XP_024307917.1:p.Leu342Val
XR_937805.2:n.1164C>G
XR_937806.2:n.1164C>G
XR_937807.2:n.1164C>G
NM_001005735.2:c.1123C>G	NP_001005735.1:p.Leu375Val
NM_001257387.2:c.331C>G	NP_001244316.1:p.Leu111Val
NM_001349956.2:c.793C>G	NP_001336885.1:p.Leu265Val