Canonical Allele Identifier: CA411094298

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2575943
• ClinVar RCV Id: RCV003322004
• dbSNP Id: rs2145785503
• MyVariant Identifiers: chr22:g.29090064C>A (hg19) ; chr22:g.28694076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694076C>A , CM000684.2:g.28694076C>A	GRCh38
NC_000022.10:g.29090064C>A , CM000684.1:g.29090064C>A	GRCh37
NC_000022.9:g.27420064C>A	NCBI36
NG_008150.1:g.52759G>T
NG_008150.2:g.52791G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*152G>T	ENSP00000518557.1:n.*152G>T
ENST00000402731.6:c.1216G>T	ENSP00000384835.2:p.Ala406Ser
ENST00000404276.6:c.1417G>T MANE Select	ENSP00000385747.1:p.Ala473Ser
ENST00000425190.7:c.754G>T	ENSP00000390244.2:p.Ala252Ser
ENST00000464581.6:c.757G>T	ENSP00000483777.2:p.Ala253Ser
ENST00000648295.1:n.969G>T
ENST00000649563.1:c.754G>T	ENSP00000496928.1:p.Ala252Ser
ENST00000650281.1:c.1417G>T	ENSP00000497000.1:p.Ala473Ser
ENST00000328354.10:c.1417G>T	ENSP00000329178.6:p.Ala473Ser
ENST00000348295.7:c.1330G>T	ENSP00000329012.5:p.Ala444Ser
ENST00000382580.6:c.1546G>T	ENSP00000372023.2:p.Ala516Ser
ENST00000402731.5:c.1330G>T	ENSP00000384835.1:p.Ala444Ser
ENST00000403642.5:c.1144G>T	ENSP00000384919.1:p.Ala382Ser
ENST00000404276.5:c.1417G>T	ENSP00000385747.1:p.Ala473Ser
ENST00000405598.5:c.1417G>T	ENSP00000386087.1:p.Ala473Ser
ENST00000416671.5:c.*907G>T	ENSP00000402225.1:n.*907G>T
ENST00000417588.5:c.1326G>T	ENSP00000412901.1:n.1326G>T
ENST00000433728.5:c.1355G>T	ENSP00000404400.1:n.1355G>T
ENST00000434810.5:c.615G>T
ENST00000448511.5:c.1307G>T	ENSP00000404567.1:n.1307G>T
ENST00000456369.5:c.264-4861G>T
NM_001005735.1:c.1546G>T	NP_001005735.1:p.Ala516Ser
NM_001257387.1:c.754G>T	NP_001244316.1:p.Ala252Ser
NM_007194.3:c.1417G>T	NP_009125.1:p.Ala473Ser
NM_145862.2:c.1330G>T	NP_665861.1:p.Ala444Ser
XM_006724114.2:c.937G>T	XP_006724177.1:p.Ala313Ser
XM_006724116.2:c.874G>T	XP_006724179.2:p.Ala292Ser
XM_011529839.1:c.1576G>T	XP_011528141.1:p.Ala526Ser
XM_011529840.1:c.1489G>T	XP_011528142.1:p.Ala497Ser
XM_011529841.1:c.1345G>T	XP_011528143.1:p.Ala449Ser
XM_011529842.1:c.1246G>T	XP_011528144.1:p.Ala416Ser
XM_011529843.1:c.1216G>T	XP_011528145.1:p.Ala406Ser
XM_011529845.1:c.754G>T	XP_011528147.1:p.Ala252Ser
XR_937805.1:n.1576G>T
NM_001349956.1:c.1216G>T	NP_001336885.1:p.Ala406Ser
NM_007194.4:c.1417G>T MANE Select	NP_009125.1:p.Ala473Ser
XM_006724114.3:c.970G>T	XP_006724177.2:p.Ala324Ser
XM_011529839.2:c.1576G>T	XP_011528141.1:p.Ala526Ser
XM_011529840.3:c.1489G>T	XP_011528142.1:p.Ala497Ser
XM_011529842.2:c.1246G>T	XP_011528144.1:p.Ala416Ser
XM_011529845.2:c.754G>T	XP_011528147.1:p.Ala252Ser
XM_017028560.1:c.1540G>T	XP_016884049.1:p.Ala514Ser
XM_017028561.2:c.754G>T	XP_016884050.1:p.Ala252Ser
XM_024452148.1:c.1447G>T	XP_024307916.1:p.Ala483Ser
XM_024452149.1:c.1360G>T	XP_024307917.1:p.Ala454Ser
XR_937805.2:n.1587G>T
NM_001005735.2:c.1546G>T	NP_001005735.1:p.Ala516Ser
NM_001257387.2:c.754G>T	NP_001244316.1:p.Ala252Ser
NM_001349956.2:c.1216G>T	NP_001336885.1:p.Ala406Ser