Canonical Allele Identifier: CA411093862

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694032C>G , CM000684.2:g.28694032C>G	GRCh38
NC_000022.10:g.29090020C>G , CM000684.1:g.29090020C>G	GRCh37
NC_000022.9:g.27420020C>G	NCBI36
NG_008150.1:g.52803G>C
NG_008150.2:g.52835G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1461G>C MANE Select	NP_009125.1:p.Gln487His
ENST00000404276.6:c.1461G>C MANE Select	ENSP00000385747.1:p.Gln487His
NM_001005735.1:c.1590G>C	NP_001005735.1:p.Gln530His
NM_001005735.2:c.1590G>C	NP_001005735.1:p.Gln530His
NM_001257387.1:c.798G>C	NP_001244316.1:p.Gln266His
NM_001257387.2:c.798G>C	NP_001244316.1:p.Gln266His
NM_001349956.1:c.1260G>C	NP_001336885.1:p.Gln420His
NM_001349956.2:c.1260G>C	NP_001336885.1:p.Gln420His
NM_007194.3:c.1461G>C	NP_009125.1:p.Gln487His
NM_145862.2:c.1374G>C	NP_665861.1:p.Gln458His
ENST00000328354.10:c.1461G>C	ENSP00000329178.6:p.Gln487His
ENST00000348295.7:c.1374G>C	ENSP00000329012.5:p.Gln458His
ENST00000382580.6:c.1590G>C	ENSP00000372023.2:p.Gln530His
ENST00000402731.5:c.1374G>C	ENSP00000384835.1:p.Gln458His
ENST00000402731.6:c.1260G>C	ENSP00000384835.2:p.Gln420His
ENST00000403642.5:c.1188G>C	ENSP00000384919.1:p.Gln396His
ENST00000404276.5:c.1461G>C	ENSP00000385747.1:p.Gln487His
ENST00000405598.5:c.1461G>C	ENSP00000386087.1:p.Gln487His
ENST00000416671.5:c.*951G>C	ENSP00000402225.1:n.*951G>C
ENST00000417588.5:c.1370G>C	ENSP00000412901.1:n.1370G>C
ENST00000425190.7:c.798G>C	ENSP00000390244.2:p.Gln266His
ENST00000433728.5:c.1399G>C	ENSP00000404400.1:n.1399G>C
ENST00000434810.5:c.659G>C
ENST00000448511.5:c.1351G>C	ENSP00000404567.1:n.1351G>C
ENST00000456369.5:c.264-4817G>C
ENST00000464581.6:c.801G>C	ENSP00000483777.2:p.Gln267His
ENST00000648295.1:n.1013G>C
ENST00000649563.1:c.798G>C	ENSP00000496928.1:p.Gln266His
ENST00000650281.1:c.1461G>C	ENSP00000497000.1:p.Gln487His
ENST00000711048.1:c.*196G>C	ENSP00000518557.1:n.*196G>C
XM_006724114.2:c.981G>C	XP_006724177.1:p.Gln327His
XM_006724114.3:c.1014G>C	XP_006724177.2:p.Gln338His
XM_006724116.2:c.918G>C	XP_006724179.2:p.Gln306His
XM_011529839.1:c.1620G>C	XP_011528141.1:p.Gln540His
XM_011529839.2:c.1620G>C	XP_011528141.1:p.Gln540His
XM_011529840.1:c.1533G>C	XP_011528142.1:p.Gln511His
XM_011529840.3:c.1533G>C	XP_011528142.1:p.Gln511His
XM_011529841.1:c.1389G>C	XP_011528143.1:p.Gln463His
XM_011529842.1:c.1290G>C	XP_011528144.1:p.Gln430His
XM_011529842.2:c.1290G>C	XP_011528144.1:p.Gln430His
XM_011529843.1:c.1260G>C	XP_011528145.1:p.Gln420His
XM_011529845.1:c.798G>C	XP_011528147.1:p.Gln266His
XM_011529845.2:c.798G>C	XP_011528147.1:p.Gln266His
XM_017028560.1:c.1584G>C	XP_016884049.1:p.Gln528His
XM_017028561.2:c.798G>C	XP_016884050.1:p.Gln266His
XM_024452148.1:c.1491G>C	XP_024307916.1:p.Gln497His
XM_024452149.1:c.1404G>C	XP_024307917.1:p.Gln468His
XR_937805.1:n.1620G>C
XR_937805.2:n.1631G>C