Canonical Allele Identifier: CA411099373

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29095835C>G (hg19) ; chr22:g.28699847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699847C>G , CM000684.2:g.28699847C>G	GRCh38
NC_000022.10:g.29095835C>G , CM000684.1:g.29095835C>G	GRCh37
NC_000022.9:g.27425835C>G	NCBI36
NG_008150.1:g.46988G>C
NG_008150.2:g.47020G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.908G>C	ENSP00000396903.2:n.908G>C
ENST00000711048.1:c.999G>C	ENSP00000518557.1:p.Leu333Phe
ENST00000402731.6:c.798G>C	ENSP00000384835.2:p.Leu266Phe
ENST00000404276.6:c.999G>C MANE Select	ENSP00000385747.1:p.Leu333Phe
ENST00000425190.7:c.336G>C	ENSP00000390244.2:p.Leu112Phe
ENST00000464581.6:c.339G>C	ENSP00000483777.2:p.Leu113Phe
ENST00000648295.1:n.551G>C
ENST00000649563.1:c.336G>C	ENSP00000496928.1:p.Leu112Phe
ENST00000650281.1:c.999G>C	ENSP00000497000.1:p.Leu333Phe
ENST00000328354.10:c.999G>C	ENSP00000329178.6:p.Leu333Phe
ENST00000348295.7:c.999G>C	ENSP00000329012.5:p.Leu333Phe
ENST00000382580.6:c.1128G>C	ENSP00000372023.2:p.Leu376Phe
ENST00000402731.5:c.999G>C	ENSP00000384835.1:p.Leu333Phe
ENST00000403642.5:c.726G>C	ENSP00000384919.1:p.Leu242Phe
ENST00000404276.5:c.999G>C	ENSP00000385747.1:p.Leu333Phe
ENST00000405598.5:c.999G>C	ENSP00000386087.1:p.Leu333Phe
ENST00000416671.5:c.*489G>C	ENSP00000402225.1:n.*489G>C
ENST00000417588.5:c.908G>C	ENSP00000412901.1:n.908G>C
ENST00000425190.6:c.336G>C	ENSP00000390244.1:p.Leu112Phe
ENST00000433028.6:c.*724G>C	ENSP00000403659.1:n.*724G>C
ENST00000433728.5:c.937G>C	ENSP00000404400.1:n.937G>C
ENST00000434810.5:c.230G>C
ENST00000439346.5:c.470G>C	ENSP00000396903.1:n.470G>C
ENST00000447421.5:c.798G>C	ENSP00000397478.2:p.Leu266Phe
ENST00000448511.5:c.889G>C	ENSP00000404567.1:n.889G>C
ENST00000456369.5:c.254G>C
ENST00000464581.5:c.339G>C	ENSP00000483777.1:p.Leu113Phe
ENST00000491919.5:n.556G>C
NM_001005735.1:c.1128G>C	NP_001005735.1:p.Leu376Phe
NM_001257387.1:c.336G>C	NP_001244316.1:p.Leu112Phe
NM_007194.3:c.999G>C	NP_009125.1:p.Leu333Phe
NM_145862.2:c.999G>C	NP_665861.1:p.Leu333Phe
XM_006724114.2:c.519G>C	XP_006724177.1:p.Leu173Phe
XM_006724116.2:c.456G>C	XP_006724179.2:p.Leu152Phe
XM_011529839.1:c.1158G>C	XP_011528141.1:p.Leu386Phe
XM_011529840.1:c.1158G>C	XP_011528142.1:p.Leu386Phe
XM_011529841.1:c.927G>C	XP_011528143.1:p.Leu309Phe
XM_011529842.1:c.828G>C	XP_011528144.1:p.Leu276Phe
XM_011529843.1:c.798G>C	XP_011528145.1:p.Leu266Phe
XM_011529844.1:c.1158G>C	XP_011528146.1:p.Leu386Phe
XM_011529845.1:c.336G>C	XP_011528147.1:p.Leu112Phe
XR_937805.1:n.1158G>C
XR_937806.1:n.1153G>C
XR_937807.1:n.1153G>C
NM_001349956.1:c.798G>C	NP_001336885.1:p.Leu266Phe
NM_007194.4:c.999G>C MANE Select	NP_009125.1:p.Leu333Phe
XM_006724114.3:c.552G>C	XP_006724177.2:p.Leu184Phe
XM_011529839.2:c.1158G>C	XP_011528141.1:p.Leu386Phe
XM_011529840.3:c.1158G>C	XP_011528142.1:p.Leu386Phe
XM_011529842.2:c.828G>C	XP_011528144.1:p.Leu276Phe
XM_011529844.2:c.1158G>C	XP_011528146.1:p.Leu386Phe
XM_011529845.2:c.336G>C	XP_011528147.1:p.Leu112Phe
XM_017028560.1:c.1122G>C	XP_016884049.1:p.Leu374Phe
XM_017028561.2:c.336G>C	XP_016884050.1:p.Leu112Phe
XM_024452148.1:c.1029G>C	XP_024307916.1:p.Leu343Phe
XM_024452149.1:c.1029G>C	XP_024307917.1:p.Leu343Phe
XR_937805.2:n.1169G>C
XR_937806.2:n.1169G>C
XR_937807.2:n.1169G>C
NM_001005735.2:c.1128G>C	NP_001005735.1:p.Leu376Phe
NM_001257387.2:c.336G>C	NP_001244316.1:p.Leu112Phe
NM_001349956.2:c.798G>C	NP_001336885.1:p.Leu266Phe