Canonical Allele Identifier: CA411096791

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29091765A>T (hg19) ; chr22:g.28695777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695777A>T , CM000684.2:g.28695777A>T	GRCh38
NC_000022.10:g.29091765A>T , CM000684.1:g.29091765A>T	GRCh37
NC_000022.9:g.27421765A>T	NCBI36
NG_008150.1:g.51058T>A
NG_008150.2:g.51090T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-535T>A	ENSP00000518557.1:n.1009-535T>A
ENST00000402731.6:c.991T>A	ENSP00000384835.2:p.Ser331Thr
ENST00000404276.6:c.1192T>A MANE Select	ENSP00000385747.1:p.Ser398Thr
ENST00000425190.7:c.529T>A	ENSP00000390244.2:p.Ser177Thr
ENST00000464581.6:c.532T>A	ENSP00000483777.2:p.Ser178Thr
ENST00000648295.1:n.744T>A
ENST00000649563.1:c.529T>A	ENSP00000496928.1:p.Ser177Thr
ENST00000650281.1:c.1192T>A	ENSP00000497000.1:p.Ser398Thr
ENST00000328354.10:c.1192T>A	ENSP00000329178.6:p.Ser398Thr
ENST00000348295.7:c.1105T>A	ENSP00000329012.5:p.Ser369Thr
ENST00000382580.6:c.1321T>A	ENSP00000372023.2:p.Ser441Thr
ENST00000402731.5:c.1105T>A	ENSP00000384835.1:p.Ser369Thr
ENST00000403642.5:c.919T>A	ENSP00000384919.1:p.Ser307Thr
ENST00000404276.5:c.1192T>A	ENSP00000385747.1:p.Ser398Thr
ENST00000405598.5:c.1192T>A	ENSP00000386087.1:p.Ser398Thr
ENST00000416671.5:c.*682T>A	ENSP00000402225.1:n.*682T>A
ENST00000417588.5:c.1101T>A	ENSP00000412901.1:n.1101T>A
ENST00000433728.5:c.1130T>A	ENSP00000404400.1:n.1130T>A
ENST00000434810.5:c.423T>A
ENST00000448511.5:c.1082T>A	ENSP00000404567.1:n.1082T>A
ENST00000456369.5:c.263+4061T>A
NM_001005735.1:c.1321T>A	NP_001005735.1:p.Ser441Thr
NM_001257387.1:c.529T>A	NP_001244316.1:p.Ser177Thr
NM_007194.3:c.1192T>A	NP_009125.1:p.Ser398Thr
NM_145862.2:c.1105T>A	NP_665861.1:p.Ser369Thr
XM_006724114.2:c.712T>A	XP_006724177.1:p.Ser238Thr
XM_006724116.2:c.649T>A	XP_006724179.2:p.Ser217Thr
XM_011529839.1:c.1351T>A	XP_011528141.1:p.Ser451Thr
XM_011529840.1:c.1264T>A	XP_011528142.1:p.Ser422Thr
XM_011529841.1:c.1120T>A	XP_011528143.1:p.Ser374Thr
XM_011529842.1:c.1021T>A	XP_011528144.1:p.Ser341Thr
XM_011529843.1:c.991T>A	XP_011528145.1:p.Ser331Thr
XM_011529845.1:c.529T>A	XP_011528147.1:p.Ser177Thr
XR_937805.1:n.1351T>A
NM_001349956.1:c.991T>A	NP_001336885.1:p.Ser331Thr
NM_007194.4:c.1192T>A MANE Select	NP_009125.1:p.Ser398Thr
XM_006724114.3:c.745T>A	XP_006724177.2:p.Ser249Thr
XM_011529839.2:c.1351T>A	XP_011528141.1:p.Ser451Thr
XM_011529840.3:c.1264T>A	XP_011528142.1:p.Ser422Thr
XM_011529842.2:c.1021T>A	XP_011528144.1:p.Ser341Thr
XM_011529845.2:c.529T>A	XP_011528147.1:p.Ser177Thr
XM_017028560.1:c.1315T>A	XP_016884049.1:p.Ser439Thr
XM_017028561.2:c.529T>A	XP_016884050.1:p.Ser177Thr
XM_024452148.1:c.1222T>A	XP_024307916.1:p.Ser408Thr
XM_024452149.1:c.1135T>A	XP_024307917.1:p.Ser379Thr
XR_937805.2:n.1362T>A
NM_001005735.2:c.1321T>A	NP_001005735.1:p.Ser441Thr
NM_001257387.2:c.529T>A	NP_001244316.1:p.Ser177Thr
NM_001349956.2:c.991T>A	NP_001336885.1:p.Ser331Thr