Canonical Allele Identifier: CA411094296

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29090063G>T (hg19) ; chr22:g.28694075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694075G>T , CM000684.2:g.28694075G>T	GRCh38
NC_000022.10:g.29090063G>T , CM000684.1:g.29090063G>T	GRCh37
NC_000022.9:g.27420063G>T	NCBI36
NG_008150.1:g.52760C>A
NG_008150.2:g.52792C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*153C>A	ENSP00000518557.1:n.*153C>A
ENST00000402731.6:c.1217C>A	ENSP00000384835.2:p.Ala406Glu
ENST00000404276.6:c.1418C>A MANE Select	ENSP00000385747.1:p.Ala473Glu
ENST00000425190.7:c.755C>A	ENSP00000390244.2:p.Ala252Glu
ENST00000464581.6:c.758C>A	ENSP00000483777.2:p.Ala253Glu
ENST00000648295.1:n.970C>A
ENST00000649563.1:c.755C>A	ENSP00000496928.1:p.Ala252Glu
ENST00000650281.1:c.1418C>A	ENSP00000497000.1:p.Ala473Glu
ENST00000328354.10:c.1418C>A	ENSP00000329178.6:p.Ala473Glu
ENST00000348295.7:c.1331C>A	ENSP00000329012.5:p.Ala444Glu
ENST00000382580.6:c.1547C>A	ENSP00000372023.2:p.Ala516Glu
ENST00000402731.5:c.1331C>A	ENSP00000384835.1:p.Ala444Glu
ENST00000403642.5:c.1145C>A	ENSP00000384919.1:p.Ala382Glu
ENST00000404276.5:c.1418C>A	ENSP00000385747.1:p.Ala473Glu
ENST00000405598.5:c.1418C>A	ENSP00000386087.1:p.Ala473Glu
ENST00000416671.5:c.*908C>A	ENSP00000402225.1:n.*908C>A
ENST00000417588.5:c.1327C>A	ENSP00000412901.1:n.1327C>A
ENST00000433728.5:c.1356C>A	ENSP00000404400.1:n.1356C>A
ENST00000434810.5:c.616C>A
ENST00000448511.5:c.1308C>A	ENSP00000404567.1:n.1308C>A
ENST00000456369.5:c.264-4860C>A
NM_001005735.1:c.1547C>A	NP_001005735.1:p.Ala516Glu
NM_001257387.1:c.755C>A	NP_001244316.1:p.Ala252Glu
NM_007194.3:c.1418C>A	NP_009125.1:p.Ala473Glu
NM_145862.2:c.1331C>A	NP_665861.1:p.Ala444Glu
XM_006724114.2:c.938C>A	XP_006724177.1:p.Ala313Glu
XM_006724116.2:c.875C>A	XP_006724179.2:p.Ala292Glu
XM_011529839.1:c.1577C>A	XP_011528141.1:p.Ala526Glu
XM_011529840.1:c.1490C>A	XP_011528142.1:p.Ala497Glu
XM_011529841.1:c.1346C>A	XP_011528143.1:p.Ala449Glu
XM_011529842.1:c.1247C>A	XP_011528144.1:p.Ala416Glu
XM_011529843.1:c.1217C>A	XP_011528145.1:p.Ala406Glu
XM_011529845.1:c.755C>A	XP_011528147.1:p.Ala252Glu
XR_937805.1:n.1577C>A
NM_001349956.1:c.1217C>A	NP_001336885.1:p.Ala406Glu
NM_007194.4:c.1418C>A MANE Select	NP_009125.1:p.Ala473Glu
XM_006724114.3:c.971C>A	XP_006724177.2:p.Ala324Glu
XM_011529839.2:c.1577C>A	XP_011528141.1:p.Ala526Glu
XM_011529840.3:c.1490C>A	XP_011528142.1:p.Ala497Glu
XM_011529842.2:c.1247C>A	XP_011528144.1:p.Ala416Glu
XM_011529845.2:c.755C>A	XP_011528147.1:p.Ala252Glu
XM_017028560.1:c.1541C>A	XP_016884049.1:p.Ala514Glu
XM_017028561.2:c.755C>A	XP_016884050.1:p.Ala252Glu
XM_024452148.1:c.1448C>A	XP_024307916.1:p.Ala483Glu
XM_024452149.1:c.1361C>A	XP_024307917.1:p.Ala454Glu
XR_937805.2:n.1588C>A
NM_001005735.2:c.1547C>A	NP_001005735.1:p.Ala516Glu
NM_001257387.2:c.755C>A	NP_001244316.1:p.Ala252Glu
NM_001349956.2:c.1217C>A	NP_001336885.1:p.Ala406Glu