Canonical Allele Identifier: CA513946556

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2846492
• ClinVar RCV Id: RCV003608234
• dbSNP Id: rs2146148626
• MyVariant Identifiers: chr22:g.29130530C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28734542C>G , CM000684.2:g.28734542C>G	GRCh38
NC_000022.10:g.29130530C>G , CM000684.1:g.29130530C>G	GRCh37
NC_000022.9:g.27460530C>G	NCBI36
NG_008150.1:g.12293G>C
NG_008150.2:g.12325G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.180G>C	ENSP00000396903.2:p.Leu60=
ENST00000454252.2:c.180G>C	ENSP00000387451.2:p.Leu60=
ENST00000711048.1:c.180G>C	ENSP00000518557.1:p.Leu60=
ENST00000398017.3:c.180G>C	ENSP00000381099.3:p.Leu60=
ENST00000402731.6:c.180G>C	ENSP00000384835.2:p.Leu60=
ENST00000404276.6:c.180G>C MANE Select	ENSP00000385747.1:p.Leu60=
ENST00000425190.7:c.-345+7227G>C	ENSP00000390244.2:n.-345+7227G>C
ENST00000649563.1:c.-72+7227G>C	ENSP00000496928.1:n.-72+7227G>C
ENST00000650233.1:c.180G>C	ENSP00000497699.1:p.Leu60=
ENST00000650281.1:c.180G>C	ENSP00000497000.1:p.Leu60=
ENST00000328354.10:c.180G>C	ENSP00000329178.6:p.Leu60=
ENST00000348295.7:c.180G>C	ENSP00000329012.5:p.Leu60=
ENST00000382565.5:c.180G>C	ENSP00000372006.2:p.Leu60=
ENST00000382580.6:c.180G>C	ENSP00000372023.2:p.Leu60=
ENST00000398017.2:c.210G>C	ENSP00000381099.2:p.Leu70=
ENST00000402731.5:c.180G>C	ENSP00000384835.1:p.Leu60=
ENST00000403642.5:c.180G>C	ENSP00000384919.1:p.Leu60=
ENST00000404276.5:c.180G>C	ENSP00000385747.1:p.Leu60=
ENST00000405598.5:c.180G>C	ENSP00000386087.1:p.Leu60=
ENST00000416671.5:c.180G>C	ENSP00000402225.1:p.Leu60=
ENST00000417588.5:c.180G>C	ENSP00000412901.1:p.Leu60=
ENST00000425190.6:c.-345+7227G>C	ENSP00000390244.1:n.-345+7227G>C
ENST00000433028.6:c.180G>C	ENSP00000403659.1:p.Leu60=
ENST00000433728.5:c.180G>C	ENSP00000404400.1:p.Leu60=
ENST00000439200.5:c.180G>C	ENSP00000408065.1:p.Leu60=
ENST00000447421.5:c.180G>C	ENSP00000397478.2:p.Leu60=
ENST00000448511.5:c.180G>C	ENSP00000404567.1:p.Leu60=
NM_001005735.1:c.180G>C	NP_001005735.1:p.Leu60=
NM_001257387.1:c.-598G>C	NP_001244316.1:n.-598G>C
NM_007194.3:c.180G>C	NP_009125.1:p.Leu60=
NM_145862.2:c.180G>C	NP_665861.1:p.Leu60=
XM_011529839.1:c.210G>C	XP_011528141.1:p.Leu70=
XM_011529840.1:c.210G>C	XP_011528142.1:p.Leu70=
XM_011529841.1:c.180G>C	XP_011528143.1:p.Leu60=
XM_011529842.1:c.210G>C	XP_011528144.1:p.Leu70=
XM_011529843.1:c.180G>C	XP_011528145.1:p.Leu60=
XM_011529844.1:c.210G>C	XP_011528146.1:p.Leu70=
XM_011529845.1:c.-345+7227G>C	XP_011528147.1:n.-345+7227G>C
XR_937805.1:n.272G>C
XR_937806.1:n.267G>C
XR_937807.1:n.267G>C
NM_001349956.1:c.180G>C	NP_001336885.1:p.Leu60=
NM_007194.4:c.180G>C MANE Select	NP_009125.1:p.Leu60=
XM_011529839.2:c.210G>C	XP_011528141.1:p.Leu70=
XM_011529840.3:c.210G>C	XP_011528142.1:p.Leu70=
XM_011529842.2:c.210G>C	XP_011528144.1:p.Leu70=
XM_011529844.2:c.210G>C	XP_011528146.1:p.Leu70=
XM_011529845.2:c.-345+7227G>C	XP_011528147.1:n.-345+7227G>C
XM_017028560.1:c.210G>C	XP_016884049.1:p.Leu70=
XM_024452148.1:c.210G>C	XP_024307916.1:p.Leu70=
XM_024452149.1:c.210G>C	XP_024307917.1:p.Leu70=
XR_937805.2:n.283G>C
XR_937806.2:n.283G>C
XR_937807.2:n.283G>C
NM_001005735.2:c.180G>C	NP_001005735.1:p.Leu60=
NM_001257387.2:c.-598G>C	NP_001244316.1:n.-598G>C
NM_001349956.2:c.180G>C	NP_001336885.1:p.Leu60=