Canonical Allele Identifier: CA513944913

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 530245
• ClinVar RCV Id: RCV000636013 ; RCV001017502
• dbSNP Id: rs1314236188
• MyVariant Identifiers: chr22:g.29091790G>T (hg19) ; chr22:g.28695802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695802G>T , CM000684.2:g.28695802G>T	GRCh38
NC_000022.10:g.29091790G>T , CM000684.1:g.29091790G>T	GRCh37
NC_000022.9:g.27421790G>T	NCBI36
NG_008150.1:g.51033C>A
NG_008150.2:g.51065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-560C>A	ENSP00000518557.1:n.1009-560C>A
ENST00000402731.6:c.966C>A	ENSP00000384835.2:p.Thr322=
ENST00000404276.6:c.1167C>A MANE Select	ENSP00000385747.1:p.Thr389=
ENST00000425190.7:c.504C>A	ENSP00000390244.2:p.Thr168=
ENST00000464581.6:c.507C>A	ENSP00000483777.2:p.Thr169=
ENST00000648295.1:n.719C>A
ENST00000649563.1:c.504C>A	ENSP00000496928.1:p.Thr168=
ENST00000650281.1:c.1167C>A	ENSP00000497000.1:p.Thr389=
ENST00000328354.10:c.1167C>A	ENSP00000329178.6:p.Thr389=
ENST00000348295.7:c.1080C>A	ENSP00000329012.5:p.Thr360=
ENST00000382580.6:c.1296C>A	ENSP00000372023.2:p.Thr432=
ENST00000402731.5:c.1080C>A	ENSP00000384835.1:p.Thr360=
ENST00000403642.5:c.894C>A	ENSP00000384919.1:p.Thr298=
ENST00000404276.5:c.1167C>A	ENSP00000385747.1:p.Thr389=
ENST00000405598.5:c.1167C>A	ENSP00000386087.1:p.Thr389=
ENST00000416671.5:c.*657C>A	ENSP00000402225.1:n.*657C>A
ENST00000417588.5:c.1076C>A	ENSP00000412901.1:n.1076C>A
ENST00000433728.5:c.1105C>A	ENSP00000404400.1:n.1105C>A
ENST00000434810.5:c.398C>A
ENST00000448511.5:c.1057C>A	ENSP00000404567.1:n.1057C>A
ENST00000456369.5:c.263+4036C>A
NM_001005735.1:c.1296C>A	NP_001005735.1:p.Thr432=
NM_001257387.1:c.504C>A	NP_001244316.1:p.Thr168=
NM_007194.3:c.1167C>A	NP_009125.1:p.Thr389=
NM_145862.2:c.1080C>A	NP_665861.1:p.Thr360=
XM_006724114.2:c.687C>A	XP_006724177.1:p.Thr229=
XM_006724116.2:c.624C>A	XP_006724179.2:p.Thr208=
XM_011529839.1:c.1326C>A	XP_011528141.1:p.Thr442=
XM_011529840.1:c.1239C>A	XP_011528142.1:p.Thr413=
XM_011529841.1:c.1095C>A	XP_011528143.1:p.Thr365=
XM_011529842.1:c.996C>A	XP_011528144.1:p.Thr332=
XM_011529843.1:c.966C>A	XP_011528145.1:p.Thr322=
XM_011529845.1:c.504C>A	XP_011528147.1:p.Thr168=
XR_937805.1:n.1326C>A
XR_937806.1:n.1234C>A
NM_001349956.1:c.966C>A	NP_001336885.1:p.Thr322=
NM_007194.4:c.1167C>A MANE Select	NP_009125.1:p.Thr389=
XM_006724114.3:c.720C>A	XP_006724177.2:p.Thr240=
XM_011529839.2:c.1326C>A	XP_011528141.1:p.Thr442=
XM_011529840.3:c.1239C>A	XP_011528142.1:p.Thr413=
XM_011529842.2:c.996C>A	XP_011528144.1:p.Thr332=
XM_011529845.2:c.504C>A	XP_011528147.1:p.Thr168=
XM_017028560.1:c.1290C>A	XP_016884049.1:p.Thr430=
XM_017028561.2:c.504C>A	XP_016884050.1:p.Thr168=
XM_024452148.1:c.1197C>A	XP_024307916.1:p.Thr399=
XM_024452149.1:c.1110C>A	XP_024307917.1:p.Thr370=
XR_937805.2:n.1337C>A
XR_937806.2:n.1250C>A
NM_001005735.2:c.1296C>A	NP_001005735.1:p.Thr432=
NM_001257387.2:c.504C>A	NP_001244316.1:p.Thr168=
NM_001349956.2:c.966C>A	NP_001336885.1:p.Thr322=