Canonical Allele Identifier: CA411102348

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710022A>T , CM000684.2:g.28710022A>T	GRCh38
NC_000022.10:g.29106010A>T , CM000684.1:g.29106010A>T	GRCh37
NC_000022.9:g.27436010A>T	NCBI36
NG_008150.1:g.36813T>A
NG_008150.2:g.36845T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.830T>A MANE Select	NP_009125.1:p.Leu277Ter
ENST00000404276.6:c.830T>A MANE Select	ENSP00000385747.1:p.Leu277Ter
NM_001005735.1:c.959T>A	NP_001005735.1:p.Leu320Ter
NM_001005735.2:c.959T>A	NP_001005735.1:p.Leu320Ter
NM_001257387.1:c.167T>A	NP_001244316.1:p.Leu56Ter
NM_001257387.2:c.167T>A	NP_001244316.1:p.Leu56Ter
NM_001349956.1:c.629T>A	NP_001336885.1:p.Leu210Ter
NM_001349956.2:c.629T>A	NP_001336885.1:p.Leu210Ter
NM_007194.3:c.830T>A	NP_009125.1:p.Leu277Ter
NM_145862.2:c.830T>A	NP_665861.1:p.Leu277Ter
ENST00000328354.10:c.830T>A	ENSP00000329178.6:p.Leu277Ter
ENST00000348295.7:c.830T>A	ENSP00000329012.5:p.Leu277Ter
ENST00000382580.6:c.959T>A	ENSP00000372023.2:p.Leu320Ter
ENST00000402731.5:c.830T>A	ENSP00000384835.1:p.Leu277Ter
ENST00000402731.6:c.629T>A	ENSP00000384835.2:p.Leu210Ter
ENST00000403642.5:c.557T>A	ENSP00000384919.1:p.Leu186Ter
ENST00000404276.5:c.830T>A	ENSP00000385747.1:p.Leu277Ter
ENST00000405598.5:c.830T>A	ENSP00000386087.1:p.Leu277Ter
ENST00000416671.5:c.*320T>A	ENSP00000402225.1:n.*320T>A
ENST00000417588.5:c.739T>A	ENSP00000412901.1:n.739T>A
ENST00000425190.6:c.167T>A	ENSP00000390244.1:p.Leu56Ter
ENST00000425190.7:c.167T>A	ENSP00000390244.2:p.Leu56Ter
ENST00000433028.6:c.*555T>A	ENSP00000403659.1:n.*555T>A
ENST00000433728.5:c.830T>A	ENSP00000404400.1:p.Leu277Ter
ENST00000434810.5:c.61T>A
ENST00000439346.5:c.301T>A	ENSP00000396903.1:n.301T>A
ENST00000439346.6:c.739T>A	ENSP00000396903.2:n.739T>A
ENST00000447421.5:c.629T>A	ENSP00000397478.2:p.Leu210Ter
ENST00000448511.5:c.720T>A	ENSP00000404567.1:n.720T>A
ENST00000456369.5:c.85T>A
ENST00000464581.5:c.170T>A	ENSP00000483777.1:p.Leu57Ter
ENST00000464581.6:c.170T>A	ENSP00000483777.2:p.Leu57Ter
ENST00000491919.5:n.387T>A
ENST00000648295.1:n.382T>A
ENST00000649563.1:c.167T>A	ENSP00000496928.1:p.Leu56Ter
ENST00000650281.1:c.830T>A	ENSP00000497000.1:p.Leu277Ter
ENST00000711048.1:c.830T>A	ENSP00000518557.1:p.Leu277Ter
XM_006724114.2:c.350T>A	XP_006724177.1:p.Leu117Ter
XM_006724114.3:c.383T>A	XP_006724177.2:p.Leu128Ter
XM_006724116.2:c.287T>A	XP_006724179.2:p.Leu96Ter
XM_011529839.1:c.989T>A	XP_011528141.1:p.Leu330Ter
XM_011529839.2:c.989T>A	XP_011528141.1:p.Leu330Ter
XM_011529840.1:c.989T>A	XP_011528142.1:p.Leu330Ter
XM_011529840.3:c.989T>A	XP_011528142.1:p.Leu330Ter
XM_011529841.1:c.758T>A	XP_011528143.1:p.Leu253Ter
XM_011529842.1:c.659T>A	XP_011528144.1:p.Leu220Ter
XM_011529842.2:c.659T>A	XP_011528144.1:p.Leu220Ter
XM_011529843.1:c.629T>A	XP_011528145.1:p.Leu210Ter
XM_011529844.1:c.989T>A	XP_011528146.1:p.Leu330Ter
XM_011529844.2:c.989T>A	XP_011528146.1:p.Leu330Ter
XM_011529845.1:c.167T>A	XP_011528147.1:p.Leu56Ter
XM_011529845.2:c.167T>A	XP_011528147.1:p.Leu56Ter
XM_017028560.1:c.953T>A	XP_016884049.1:p.Leu318Ter
XM_017028561.2:c.167T>A	XP_016884050.1:p.Leu56Ter
XM_024452148.1:c.860T>A	XP_024307916.1:p.Leu287Ter
XM_024452149.1:c.860T>A	XP_024307917.1:p.Leu287Ter
XR_937805.1:n.1051T>A
XR_937805.2:n.1062T>A
XR_937806.1:n.1046T>A
XR_937806.2:n.1062T>A
XR_937807.1:n.1046T>A
XR_937807.2:n.1062T>A