Canonical Allele Identifier: CA411096788

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1745425
• ClinVar RCV Id: RCV002351514
• MyVariant Identifiers: chr22:g.29091764G>T (hg19) ; chr22:g.28695776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695776G>T , CM000684.2:g.28695776G>T	GRCh38
NC_000022.10:g.29091764G>T , CM000684.1:g.29091764G>T	GRCh37
NC_000022.9:g.27421764G>T	NCBI36
NG_008150.1:g.51059C>A
NG_008150.2:g.51091C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-534C>A	ENSP00000518557.1:n.1009-534C>A
ENST00000402731.6:c.992C>A	ENSP00000384835.2:p.Ser331Tyr
ENST00000404276.6:c.1193C>A MANE Select	ENSP00000385747.1:p.Ser398Tyr
ENST00000425190.7:c.530C>A	ENSP00000390244.2:p.Ser177Tyr
ENST00000464581.6:c.533C>A	ENSP00000483777.2:p.Ser178Tyr
ENST00000648295.1:n.745C>A
ENST00000649563.1:c.530C>A	ENSP00000496928.1:p.Ser177Tyr
ENST00000650281.1:c.1193C>A	ENSP00000497000.1:p.Ser398Tyr
ENST00000328354.10:c.1193C>A	ENSP00000329178.6:p.Ser398Tyr
ENST00000348295.7:c.1106C>A	ENSP00000329012.5:p.Ser369Tyr
ENST00000382580.6:c.1322C>A	ENSP00000372023.2:p.Ser441Tyr
ENST00000402731.5:c.1106C>A	ENSP00000384835.1:p.Ser369Tyr
ENST00000403642.5:c.920C>A	ENSP00000384919.1:p.Ser307Tyr
ENST00000404276.5:c.1193C>A	ENSP00000385747.1:p.Ser398Tyr
ENST00000405598.5:c.1193C>A	ENSP00000386087.1:p.Ser398Tyr
ENST00000416671.5:c.*683C>A	ENSP00000402225.1:n.*683C>A
ENST00000417588.5:c.1102C>A	ENSP00000412901.1:n.1102C>A
ENST00000433728.5:c.1131C>A	ENSP00000404400.1:n.1131C>A
ENST00000434810.5:c.424C>A
ENST00000448511.5:c.1083C>A	ENSP00000404567.1:n.1083C>A
ENST00000456369.5:c.263+4062C>A
NM_001005735.1:c.1322C>A	NP_001005735.1:p.Ser441Tyr
NM_001257387.1:c.530C>A	NP_001244316.1:p.Ser177Tyr
NM_007194.3:c.1193C>A	NP_009125.1:p.Ser398Tyr
NM_145862.2:c.1106C>A	NP_665861.1:p.Ser369Tyr
XM_006724114.2:c.713C>A	XP_006724177.1:p.Ser238Tyr
XM_006724116.2:c.650C>A	XP_006724179.2:p.Ser217Tyr
XM_011529839.1:c.1352C>A	XP_011528141.1:p.Ser451Tyr
XM_011529840.1:c.1265C>A	XP_011528142.1:p.Ser422Tyr
XM_011529841.1:c.1121C>A	XP_011528143.1:p.Ser374Tyr
XM_011529842.1:c.1022C>A	XP_011528144.1:p.Ser341Tyr
XM_011529843.1:c.992C>A	XP_011528145.1:p.Ser331Tyr
XM_011529845.1:c.530C>A	XP_011528147.1:p.Ser177Tyr
XR_937805.1:n.1352C>A
NM_001349956.1:c.992C>A	NP_001336885.1:p.Ser331Tyr
NM_007194.4:c.1193C>A MANE Select	NP_009125.1:p.Ser398Tyr
XM_006724114.3:c.746C>A	XP_006724177.2:p.Ser249Tyr
XM_011529839.2:c.1352C>A	XP_011528141.1:p.Ser451Tyr
XM_011529840.3:c.1265C>A	XP_011528142.1:p.Ser422Tyr
XM_011529842.2:c.1022C>A	XP_011528144.1:p.Ser341Tyr
XM_011529845.2:c.530C>A	XP_011528147.1:p.Ser177Tyr
XM_017028560.1:c.1316C>A	XP_016884049.1:p.Ser439Tyr
XM_017028561.2:c.530C>A	XP_016884050.1:p.Ser177Tyr
XM_024452148.1:c.1223C>A	XP_024307916.1:p.Ser408Tyr
XM_024452149.1:c.1136C>A	XP_024307917.1:p.Ser379Tyr
XR_937805.2:n.1363C>A
NM_001005735.2:c.1322C>A	NP_001005735.1:p.Ser441Tyr
NM_001257387.2:c.530C>A	NP_001244316.1:p.Ser177Tyr
NM_001349956.2:c.992C>A	NP_001336885.1:p.Ser331Tyr