Canonical Allele Identifier: CA411096657

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145802120
• MyVariant Identifiers: chr22:g.29091728C>T (hg19) ; chr22:g.28695740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695740C>T , CM000684.2:g.28695740C>T	GRCh38
NC_000022.10:g.29091728C>T , CM000684.1:g.29091728C>T	GRCh37
NC_000022.9:g.27421728C>T	NCBI36
NG_008150.1:g.51095G>A
NG_008150.2:g.51127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-498G>A	ENSP00000518557.1:n.1009-498G>A
ENST00000402731.6:c.1028G>A	ENSP00000384835.2:p.Cys343Tyr
ENST00000404276.6:c.1229G>A MANE Select	ENSP00000385747.1:p.Cys410Tyr
ENST00000425190.7:c.566G>A	ENSP00000390244.2:p.Cys189Tyr
ENST00000464581.6:c.569G>A	ENSP00000483777.2:p.Cys190Tyr
ENST00000648295.1:n.781G>A
ENST00000649563.1:c.566G>A	ENSP00000496928.1:p.Cys189Tyr
ENST00000650281.1:c.1229G>A	ENSP00000497000.1:p.Cys410Tyr
ENST00000328354.10:c.1229G>A	ENSP00000329178.6:p.Cys410Tyr
ENST00000348295.7:c.1142G>A	ENSP00000329012.5:p.Cys381Tyr
ENST00000382580.6:c.1358G>A	ENSP00000372023.2:p.Cys453Tyr
ENST00000402731.5:c.1142G>A	ENSP00000384835.1:p.Cys381Tyr
ENST00000403642.5:c.956G>A	ENSP00000384919.1:p.Cys319Tyr
ENST00000404276.5:c.1229G>A	ENSP00000385747.1:p.Cys410Tyr
ENST00000405598.5:c.1229G>A	ENSP00000386087.1:p.Cys410Tyr
ENST00000416671.5:c.*719G>A	ENSP00000402225.1:n.*719G>A
ENST00000417588.5:c.1138G>A	ENSP00000412901.1:n.1138G>A
ENST00000433728.5:c.1167G>A	ENSP00000404400.1:n.1167G>A
ENST00000434810.5:c.460G>A
ENST00000448511.5:c.1119G>A	ENSP00000404567.1:n.1119G>A
ENST00000456369.5:c.263+4098G>A
NM_001005735.1:c.1358G>A	NP_001005735.1:p.Cys453Tyr
NM_001257387.1:c.566G>A	NP_001244316.1:p.Cys189Tyr
NM_007194.3:c.1229G>A	NP_009125.1:p.Cys410Tyr
NM_145862.2:c.1142G>A	NP_665861.1:p.Cys381Tyr
XM_006724114.2:c.749G>A	XP_006724177.1:p.Cys250Tyr
XM_006724116.2:c.686G>A	XP_006724179.2:p.Cys229Tyr
XM_011529839.1:c.1388G>A	XP_011528141.1:p.Cys463Tyr
XM_011529840.1:c.1301G>A	XP_011528142.1:p.Cys434Tyr
XM_011529841.1:c.1157G>A	XP_011528143.1:p.Cys386Tyr
XM_011529842.1:c.1058G>A	XP_011528144.1:p.Cys353Tyr
XM_011529843.1:c.1028G>A	XP_011528145.1:p.Cys343Tyr
XM_011529845.1:c.566G>A	XP_011528147.1:p.Cys189Tyr
XR_937805.1:n.1388G>A
NM_001349956.1:c.1028G>A	NP_001336885.1:p.Cys343Tyr
NM_007194.4:c.1229G>A MANE Select	NP_009125.1:p.Cys410Tyr
XM_006724114.3:c.782G>A	XP_006724177.2:p.Cys261Tyr
XM_011529839.2:c.1388G>A	XP_011528141.1:p.Cys463Tyr
XM_011529840.3:c.1301G>A	XP_011528142.1:p.Cys434Tyr
XM_011529842.2:c.1058G>A	XP_011528144.1:p.Cys353Tyr
XM_011529845.2:c.566G>A	XP_011528147.1:p.Cys189Tyr
XM_017028560.1:c.1352G>A	XP_016884049.1:p.Cys451Tyr
XM_017028561.2:c.566G>A	XP_016884050.1:p.Cys189Tyr
XM_024452148.1:c.1259G>A	XP_024307916.1:p.Cys420Tyr
XM_024452149.1:c.1172G>A	XP_024307917.1:p.Cys391Tyr
XR_937805.2:n.1399G>A
NM_001005735.2:c.1358G>A	NP_001005735.1:p.Cys453Tyr
NM_001257387.2:c.566G>A	NP_001244316.1:p.Cys189Tyr
NM_001349956.2:c.1028G>A	NP_001336885.1:p.Cys343Tyr