Canonical Allele Identifier: CA189468

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695179G>A , CM000684.2:g.28695179G>A	GRCh38
NC_000022.10:g.29091167G>A , CM000684.1:g.29091167G>A	GRCh37
NC_000022.9:g.27421167G>A	NCBI36
NG_008150.1:g.51656C>T
NG_008150.2:g.51688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*58C>T	ENSP00000518557.1:n.*58C>T
ENST00000402731.6:c.1122C>T	ENSP00000384835.2:p.Thr374=
ENST00000404276.6:c.1323C>T MANE Select	ENSP00000385747.1:p.Thr441=
ENST00000425190.7:c.660C>T	ENSP00000390244.2:p.Thr220=
ENST00000464581.6:c.663C>T	ENSP00000483777.2:p.Thr221=
ENST00000648295.1:n.875C>T
ENST00000649563.1:c.660C>T	ENSP00000496928.1:p.Thr220=
ENST00000650281.1:c.1323C>T	ENSP00000497000.1:p.Thr441=
ENST00000328354.10:c.1323C>T	ENSP00000329178.6:p.Thr441=
ENST00000348295.7:c.1236C>T	ENSP00000329012.5:p.Thr412=
ENST00000382580.6:c.1452C>T	ENSP00000372023.2:p.Thr484=
ENST00000402731.5:c.1236C>T	ENSP00000384835.1:p.Thr412=
ENST00000403642.5:c.1050C>T	ENSP00000384919.1:p.Thr350=
ENST00000404276.5:c.1323C>T	ENSP00000385747.1:p.Thr441=
ENST00000405598.5:c.1323C>T	ENSP00000386087.1:p.Thr441=
ENST00000416671.5:c.*813C>T	ENSP00000402225.1:n.*813C>T
ENST00000417588.5:c.1232C>T	ENSP00000412901.1:n.1232C>T
ENST00000433728.5:c.1261C>T	ENSP00000404400.1:n.1261C>T
ENST00000434810.5:c.521C>T
ENST00000448511.5:c.1213C>T	ENSP00000404567.1:n.1213C>T
ENST00000456369.5:c.263+4659C>T
NM_001005735.1:c.1452C>T	NP_001005735.1:p.Thr484=
NM_001257387.1:c.660C>T	NP_001244316.1:p.Thr220=
NM_007194.3:c.1323C>T	NP_009125.1:p.Thr441=
NM_145862.2:c.1236C>T	NP_665861.1:p.Thr412=
XM_006724114.2:c.843C>T	XP_006724177.1:p.Thr281=
XM_006724116.2:c.780C>T	XP_006724179.2:p.Thr260=
XM_011529839.1:c.1482C>T	XP_011528141.1:p.Thr494=
XM_011529840.1:c.1395C>T	XP_011528142.1:p.Thr465=
XM_011529841.1:c.1251C>T	XP_011528143.1:p.Thr417=
XM_011529842.1:c.1152C>T	XP_011528144.1:p.Thr384=
XM_011529843.1:c.1122C>T	XP_011528145.1:p.Thr374=
XM_011529845.1:c.660C>T	XP_011528147.1:p.Thr220=
XR_937805.1:n.1482C>T
NM_001349956.1:c.1122C>T	NP_001336885.1:p.Thr374=
NM_007194.4:c.1323C>T MANE Select	NP_009125.1:p.Thr441=
XM_006724114.3:c.876C>T	XP_006724177.2:p.Thr292=
XM_011529839.2:c.1482C>T	XP_011528141.1:p.Thr494=
XM_011529840.3:c.1395C>T	XP_011528142.1:p.Thr465=
XM_011529842.2:c.1152C>T	XP_011528144.1:p.Thr384=
XM_011529845.2:c.660C>T	XP_011528147.1:p.Thr220=
XM_017028560.1:c.1446C>T	XP_016884049.1:p.Thr482=
XM_017028561.2:c.660C>T	XP_016884050.1:p.Thr220=
XM_024452148.1:c.1353C>T	XP_024307916.1:p.Thr451=
XM_024452149.1:c.1266C>T	XP_024307917.1:p.Thr422=
XR_937805.2:n.1493C>T
NM_001005735.2:c.1452C>T	NP_001005735.1:p.Thr484=
NM_001257387.2:c.660C>T	NP_001244316.1:p.Thr220=
NM_001349956.2:c.1122C>T	NP_001336885.1:p.Thr374=