Canonical Allele Identifier: CA411096651

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 847853
• ClinVar RCV Id: RCV001051488
• dbSNP Id: rs773380144
• MyVariant Identifiers: chr22:g.29091727G>T (hg19) ; chr22:g.28695739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695739G>T , CM000684.2:g.28695739G>T	GRCh38
NC_000022.10:g.29091727G>T , CM000684.1:g.29091727G>T	GRCh37
NC_000022.9:g.27421727G>T	NCBI36
NG_008150.1:g.51096C>A
NG_008150.2:g.51128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-497C>A	ENSP00000518557.1:n.1009-497C>A
ENST00000402731.6:c.1029C>A	ENSP00000384835.2:p.Cys343Ter
ENST00000404276.6:c.1230C>A MANE Select	ENSP00000385747.1:p.Cys410Ter
ENST00000425190.7:c.567C>A	ENSP00000390244.2:p.Cys189Ter
ENST00000464581.6:c.570C>A	ENSP00000483777.2:p.Cys190Ter
ENST00000648295.1:n.782C>A
ENST00000649563.1:c.567C>A	ENSP00000496928.1:p.Cys189Ter
ENST00000650281.1:c.1230C>A	ENSP00000497000.1:p.Cys410Ter
ENST00000328354.10:c.1230C>A	ENSP00000329178.6:p.Cys410Ter
ENST00000348295.7:c.1143C>A	ENSP00000329012.5:p.Cys381Ter
ENST00000382580.6:c.1359C>A	ENSP00000372023.2:p.Cys453Ter
ENST00000402731.5:c.1143C>A	ENSP00000384835.1:p.Cys381Ter
ENST00000403642.5:c.957C>A	ENSP00000384919.1:p.Cys319Ter
ENST00000404276.5:c.1230C>A	ENSP00000385747.1:p.Cys410Ter
ENST00000405598.5:c.1230C>A	ENSP00000386087.1:p.Cys410Ter
ENST00000416671.5:c.*720C>A	ENSP00000402225.1:n.*720C>A
ENST00000417588.5:c.1139C>A	ENSP00000412901.1:n.1139C>A
ENST00000433728.5:c.1168C>A	ENSP00000404400.1:n.1168C>A
ENST00000434810.5:c.461C>A
ENST00000448511.5:c.1120C>A	ENSP00000404567.1:n.1120C>A
ENST00000456369.5:c.263+4099C>A
NM_001005735.1:c.1359C>A	NP_001005735.1:p.Cys453Ter
NM_001257387.1:c.567C>A	NP_001244316.1:p.Cys189Ter
NM_007194.3:c.1230C>A	NP_009125.1:p.Cys410Ter
NM_145862.2:c.1143C>A	NP_665861.1:p.Cys381Ter
XM_006724114.2:c.750C>A	XP_006724177.1:p.Cys250Ter
XM_006724116.2:c.687C>A	XP_006724179.2:p.Cys229Ter
XM_011529839.1:c.1389C>A	XP_011528141.1:p.Cys463Ter
XM_011529840.1:c.1302C>A	XP_011528142.1:p.Cys434Ter
XM_011529841.1:c.1158C>A	XP_011528143.1:p.Cys386Ter
XM_011529842.1:c.1059C>A	XP_011528144.1:p.Cys353Ter
XM_011529843.1:c.1029C>A	XP_011528145.1:p.Cys343Ter
XM_011529845.1:c.567C>A	XP_011528147.1:p.Cys189Ter
XR_937805.1:n.1389C>A
NM_001349956.1:c.1029C>A	NP_001336885.1:p.Cys343Ter
NM_007194.4:c.1230C>A MANE Select	NP_009125.1:p.Cys410Ter
XM_006724114.3:c.783C>A	XP_006724177.2:p.Cys261Ter
XM_011529839.2:c.1389C>A	XP_011528141.1:p.Cys463Ter
XM_011529840.3:c.1302C>A	XP_011528142.1:p.Cys434Ter
XM_011529842.2:c.1059C>A	XP_011528144.1:p.Cys353Ter
XM_011529845.2:c.567C>A	XP_011528147.1:p.Cys189Ter
XM_017028560.1:c.1353C>A	XP_016884049.1:p.Cys451Ter
XM_017028561.2:c.567C>A	XP_016884050.1:p.Cys189Ter
XM_024452148.1:c.1260C>A	XP_024307916.1:p.Cys420Ter
XM_024452149.1:c.1173C>A	XP_024307917.1:p.Cys391Ter
XR_937805.2:n.1400C>A
NM_001005735.2:c.1359C>A	NP_001005735.1:p.Cys453Ter
NM_001257387.2:c.567C>A	NP_001244316.1:p.Cys189Ter
NM_001349956.2:c.1029C>A	NP_001336885.1:p.Cys343Ter