Canonical Allele Identifier: CA288292

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687973C>T , CM000684.2:g.28687973C>T	GRCh38
NC_000022.10:g.29083961C>T , CM000684.1:g.29083961C>T	GRCh37
NC_000022.9:g.27413961C>T	NCBI36
NG_008150.1:g.58862G>A
NG_008150.2:g.58894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*291G>A	ENSP00000518557.1:n.*291G>A
ENST00000402731.6:c.1355G>A	ENSP00000384835.2:p.Arg452Gln
ENST00000404276.6:c.1556G>A MANE Select	ENSP00000385747.1:p.Arg519Gln
ENST00000425190.7:c.893G>A	ENSP00000390244.2:p.Arg298Gln
ENST00000464581.6:c.896G>A	ENSP00000483777.2:p.Arg299Gln
ENST00000648295.1:n.1108G>A
ENST00000649563.1:c.893G>A	ENSP00000496928.1:p.Arg298Gln
ENST00000650281.1:c.1556G>A	ENSP00000497000.1:p.Arg519Gln
ENST00000328354.10:c.1556G>A	ENSP00000329178.6:p.Arg519Gln
ENST00000348295.7:c.1469G>A	ENSP00000329012.5:p.Arg490Gln
ENST00000382580.6:c.1685G>A	ENSP00000372023.2:p.Arg562Gln
ENST00000402731.5:c.1469G>A	ENSP00000384835.1:p.Arg490Gln
ENST00000403642.5:c.1283G>A	ENSP00000384919.1:p.Arg428Gln
ENST00000404276.5:c.1556G>A	ENSP00000385747.1:p.Arg519Gln
ENST00000405598.5:c.1556G>A	ENSP00000386087.1:p.Arg519Gln
ENST00000416671.5:c.*1046G>A	ENSP00000402225.1:n.*1046G>A
ENST00000417588.5:c.1465G>A	ENSP00000412901.1:n.1465G>A
ENST00000433728.5:c.1494G>A	ENSP00000404400.1:n.1494G>A
ENST00000434810.5:c.754G>A
ENST00000448511.5:c.1446G>A	ENSP00000404567.1:n.1446G>A
ENST00000456369.5:c.358G>A
ENST00000472807.1:n.290G>A
NM_001005735.1:c.1685G>A	NP_001005735.1:p.Arg562Gln
NM_001257387.1:c.893G>A	NP_001244316.1:p.Arg298Gln
NM_007194.3:c.1556G>A	NP_009125.1:p.Arg519Gln
NM_145862.2:c.1469G>A	NP_665861.1:p.Arg490Gln
XM_006724114.2:c.1076G>A	XP_006724177.1:p.Arg359Gln
XM_006724116.2:c.1013G>A	XP_006724179.2:p.Arg338Gln
XM_011529839.1:c.1715G>A	XP_011528141.1:p.Arg572Gln
XM_011529840.1:c.1628G>A	XP_011528142.1:p.Arg543Gln
XM_011529841.1:c.1484G>A	XP_011528143.1:p.Arg495Gln
XM_011529842.1:c.1385G>A	XP_011528144.1:p.Arg462Gln
XM_011529843.1:c.1355G>A	XP_011528145.1:p.Arg452Gln
XM_011529845.1:c.893G>A	XP_011528147.1:p.Arg298Gln
XR_937805.1:n.1715G>A
NM_001349956.1:c.1355G>A	NP_001336885.1:p.Arg452Gln
NM_007194.4:c.1556G>A MANE Select	NP_009125.1:p.Arg519Gln
XM_006724114.3:c.1109G>A	XP_006724177.2:p.Arg370Gln
XM_011529839.2:c.1715G>A	XP_011528141.1:p.Arg572Gln
XM_011529840.3:c.1628G>A	XP_011528142.1:p.Arg543Gln
XM_011529842.2:c.1385G>A	XP_011528144.1:p.Arg462Gln
XM_011529845.2:c.893G>A	XP_011528147.1:p.Arg298Gln
XM_017028560.1:c.1679G>A	XP_016884049.1:p.Arg560Gln
XM_017028561.2:c.893G>A	XP_016884050.1:p.Arg298Gln
XM_024452148.1:c.1586G>A	XP_024307916.1:p.Arg529Gln
XM_024452149.1:c.1499G>A	XP_024307917.1:p.Arg500Gln
XR_937805.2:n.1726G>A
NM_001005735.2:c.1685G>A	NP_001005735.1:p.Arg562Gln
NM_001257387.2:c.893G>A	NP_001244316.1:p.Arg298Gln
NM_001349956.2:c.1355G>A	NP_001336885.1:p.Arg452Gln