Canonical Allele Identifier: CA10577632

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 231943
• ClinVar RCV Id: RCV000213121 ; RCV000219946 ; RCV000470899
• dbSNP Id: rs540635787
• gnomAD v4: 22-28694073-G-T
• MyVariant Identifiers: chr22:g.29090061G>T (hg19) ; chr22:g.28694073G>T (hg38)
• PubMed: PMID:19782031 ; PMID:22138346

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694073G>T , CM000684.2:g.28694073G>T	GRCh38
NC_000022.10:g.29090061G>T , CM000684.1:g.29090061G>T	GRCh37
NC_000022.9:g.27420061G>T	NCBI36
NG_008150.1:g.52762C>A
NG_008150.2:g.52794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*155C>A	ENSP00000518557.1:n.*155C>A
ENST00000402731.6:c.1219C>A	ENSP00000384835.2:p.Arg407Ser
ENST00000404276.6:c.1420C>A MANE Select	ENSP00000385747.1:p.Arg474Ser
ENST00000425190.7:c.757C>A	ENSP00000390244.2:p.Arg253Ser
ENST00000464581.6:c.760C>A	ENSP00000483777.2:p.Arg254Ser
ENST00000648295.1:n.972C>A
ENST00000649563.1:c.757C>A	ENSP00000496928.1:p.Arg253Ser
ENST00000650281.1:c.1420C>A	ENSP00000497000.1:p.Arg474Ser
ENST00000328354.10:c.1420C>A	ENSP00000329178.6:p.Arg474Ser
ENST00000348295.7:c.1333C>A	ENSP00000329012.5:p.Arg445Ser
ENST00000382580.6:c.1549C>A	ENSP00000372023.2:p.Arg517Ser
ENST00000402731.5:c.1333C>A	ENSP00000384835.1:p.Arg445Ser
ENST00000403642.5:c.1147C>A	ENSP00000384919.1:p.Arg383Ser
ENST00000404276.5:c.1420C>A	ENSP00000385747.1:p.Arg474Ser
ENST00000405598.5:c.1420C>A	ENSP00000386087.1:p.Arg474Ser
ENST00000416671.5:c.*910C>A	ENSP00000402225.1:n.*910C>A
ENST00000417588.5:c.1329C>A	ENSP00000412901.1:n.1329C>A
ENST00000433728.5:c.1358C>A	ENSP00000404400.1:n.1358C>A
ENST00000434810.5:c.618C>A
ENST00000448511.5:c.1310C>A	ENSP00000404567.1:n.1310C>A
ENST00000456369.5:c.264-4858C>A
NM_001005735.1:c.1549C>A	NP_001005735.1:p.Arg517Ser
NM_001257387.1:c.757C>A	NP_001244316.1:p.Arg253Ser
NM_007194.3:c.1420C>A	NP_009125.1:p.Arg474Ser
NM_145862.2:c.1333C>A	NP_665861.1:p.Arg445Ser
XM_006724114.2:c.940C>A	XP_006724177.1:p.Arg314Ser
XM_006724116.2:c.877C>A	XP_006724179.2:p.Arg293Ser
XM_011529839.1:c.1579C>A	XP_011528141.1:p.Arg527Ser
XM_011529840.1:c.1492C>A	XP_011528142.1:p.Arg498Ser
XM_011529841.1:c.1348C>A	XP_011528143.1:p.Arg450Ser
XM_011529842.1:c.1249C>A	XP_011528144.1:p.Arg417Ser
XM_011529843.1:c.1219C>A	XP_011528145.1:p.Arg407Ser
XM_011529845.1:c.757C>A	XP_011528147.1:p.Arg253Ser
XR_937805.1:n.1579C>A
NM_001349956.1:c.1219C>A	NP_001336885.1:p.Arg407Ser
NM_007194.4:c.1420C>A MANE Select	NP_009125.1:p.Arg474Ser
XM_006724114.3:c.973C>A	XP_006724177.2:p.Arg325Ser
XM_011529839.2:c.1579C>A	XP_011528141.1:p.Arg527Ser
XM_011529840.3:c.1492C>A	XP_011528142.1:p.Arg498Ser
XM_011529842.2:c.1249C>A	XP_011528144.1:p.Arg417Ser
XM_011529845.2:c.757C>A	XP_011528147.1:p.Arg253Ser
XM_017028560.1:c.1543C>A	XP_016884049.1:p.Arg515Ser
XM_017028561.2:c.757C>A	XP_016884050.1:p.Arg253Ser
XM_024452148.1:c.1450C>A	XP_024307916.1:p.Arg484Ser
XM_024452149.1:c.1363C>A	XP_024307917.1:p.Arg455Ser
XR_937805.2:n.1590C>A
NM_001005735.2:c.1549C>A	NP_001005735.1:p.Arg517Ser
NM_001257387.2:c.757C>A	NP_001244316.1:p.Arg253Ser
NM_001349956.2:c.1219C>A	NP_001336885.1:p.Arg407Ser