Canonical Allele Identifier: CA411092325

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689147C>G , CM000684.2:g.28689147C>G	GRCh38
NC_000022.10:g.29085135C>G , CM000684.1:g.29085135C>G	GRCh37
NC_000022.9:g.27415135C>G	NCBI36
NG_008150.1:g.57688G>C
NG_008150.2:g.57720G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1530G>C MANE Select	NP_009125.1:p.Gln510His
ENST00000404276.6:c.1530G>C MANE Select	ENSP00000385747.1:p.Gln510His
NM_001005735.1:c.1659G>C	NP_001005735.1:p.Gln553His
NM_001005735.2:c.1659G>C	NP_001005735.1:p.Gln553His
NM_001257387.1:c.867G>C	NP_001244316.1:p.Gln289His
NM_001257387.2:c.867G>C	NP_001244316.1:p.Gln289His
NM_001349956.1:c.1329G>C	NP_001336885.1:p.Gln443His
NM_001349956.2:c.1329G>C	NP_001336885.1:p.Gln443His
NM_007194.3:c.1530G>C	NP_009125.1:p.Gln510His
NM_145862.2:c.1443G>C	NP_665861.1:p.Gln481His
ENST00000328354.10:c.1530G>C	ENSP00000329178.6:p.Gln510His
ENST00000348295.7:c.1443G>C	ENSP00000329012.5:p.Gln481His
ENST00000382580.6:c.1659G>C	ENSP00000372023.2:p.Gln553His
ENST00000402731.5:c.1443G>C	ENSP00000384835.1:p.Gln481His
ENST00000402731.6:c.1329G>C	ENSP00000384835.2:p.Gln443His
ENST00000403642.5:c.1257G>C	ENSP00000384919.1:p.Gln419His
ENST00000404276.5:c.1530G>C	ENSP00000385747.1:p.Gln510His
ENST00000405598.5:c.1530G>C	ENSP00000386087.1:p.Gln510His
ENST00000416671.5:c.*1020G>C	ENSP00000402225.1:n.*1020G>C
ENST00000417588.5:c.1439G>C	ENSP00000412901.1:n.1439G>C
ENST00000425190.7:c.867G>C	ENSP00000390244.2:p.Gln289His
ENST00000433728.5:c.1468G>C	ENSP00000404400.1:n.1468G>C
ENST00000434810.5:c.728G>C
ENST00000448511.5:c.1420G>C	ENSP00000404567.1:n.1420G>C
ENST00000456369.5:c.332G>C
ENST00000464581.6:c.870G>C	ENSP00000483777.2:p.Gln290His
ENST00000472807.1:n.264G>C
ENST00000648295.1:n.1082G>C
ENST00000649563.1:c.867G>C	ENSP00000496928.1:p.Gln289His
ENST00000650281.1:c.1530G>C	ENSP00000497000.1:p.Gln510His
ENST00000711048.1:c.*265G>C	ENSP00000518557.1:n.*265G>C
XM_006724114.2:c.1050G>C	XP_006724177.1:p.Gln350His
XM_006724114.3:c.1083G>C	XP_006724177.2:p.Gln361His
XM_006724116.2:c.987G>C	XP_006724179.2:p.Gln329His
XM_011529839.1:c.1689G>C	XP_011528141.1:p.Gln563His
XM_011529839.2:c.1689G>C	XP_011528141.1:p.Gln563His
XM_011529840.1:c.1602G>C	XP_011528142.1:p.Gln534His
XM_011529840.3:c.1602G>C	XP_011528142.1:p.Gln534His
XM_011529841.1:c.1458G>C	XP_011528143.1:p.Gln486His
XM_011529842.1:c.1359G>C	XP_011528144.1:p.Gln453His
XM_011529842.2:c.1359G>C	XP_011528144.1:p.Gln453His
XM_011529843.1:c.1329G>C	XP_011528145.1:p.Gln443His
XM_011529845.1:c.867G>C	XP_011528147.1:p.Gln289His
XM_011529845.2:c.867G>C	XP_011528147.1:p.Gln289His
XM_017028560.1:c.1653G>C	XP_016884049.1:p.Gln551His
XM_017028561.2:c.867G>C	XP_016884050.1:p.Gln289His
XM_024452148.1:c.1560G>C	XP_024307916.1:p.Gln520His
XM_024452149.1:c.1473G>C	XP_024307917.1:p.Gln491His
XR_937805.1:n.1689G>C
XR_937805.2:n.1700G>C