Canonical Allele Identifier: CA513944763

Gene: CHEK2

Linked Data

• dbSNP Id: rs1280437455
• gnomAD v2: 22-29090062-T-A
• MyVariant Identifiers: chr22:g.29090062T>A (hg19) ; chr22:g.28694074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694074T>A , CM000684.2:g.28694074T>A	GRCh38
NC_000022.10:g.29090062T>A , CM000684.1:g.29090062T>A	GRCh37
NC_000022.9:g.27420062T>A	NCBI36
NG_008150.1:g.52761A>T
NG_008150.2:g.52793A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*154A>T	ENSP00000518557.1:n.*154A>T
ENST00000402731.6:c.1218A>T	ENSP00000384835.2:p.Ala406=
ENST00000404276.6:c.1419A>T MANE Select	ENSP00000385747.1:p.Ala473=
ENST00000425190.7:c.756A>T	ENSP00000390244.2:p.Ala252=
ENST00000464581.6:c.759A>T	ENSP00000483777.2:p.Ala253=
ENST00000648295.1:n.971A>T
ENST00000649563.1:c.756A>T	ENSP00000496928.1:p.Ala252=
ENST00000650281.1:c.1419A>T	ENSP00000497000.1:p.Ala473=
ENST00000328354.10:c.1419A>T	ENSP00000329178.6:p.Ala473=
ENST00000348295.7:c.1332A>T	ENSP00000329012.5:p.Ala444=
ENST00000382580.6:c.1548A>T	ENSP00000372023.2:p.Ala516=
ENST00000402731.5:c.1332A>T	ENSP00000384835.1:p.Ala444=
ENST00000403642.5:c.1146A>T	ENSP00000384919.1:p.Ala382=
ENST00000404276.5:c.1419A>T	ENSP00000385747.1:p.Ala473=
ENST00000405598.5:c.1419A>T	ENSP00000386087.1:p.Ala473=
ENST00000416671.5:c.*909A>T	ENSP00000402225.1:n.*909A>T
ENST00000417588.5:c.1328A>T	ENSP00000412901.1:n.1328A>T
ENST00000433728.5:c.1357A>T	ENSP00000404400.1:n.1357A>T
ENST00000434810.5:c.617A>T
ENST00000448511.5:c.1309A>T	ENSP00000404567.1:n.1309A>T
ENST00000456369.5:c.264-4859A>T
NM_001005735.1:c.1548A>T	NP_001005735.1:p.Ala516=
NM_001257387.1:c.756A>T	NP_001244316.1:p.Ala252=
NM_007194.3:c.1419A>T	NP_009125.1:p.Ala473=
NM_145862.2:c.1332A>T	NP_665861.1:p.Ala444=
XM_006724114.2:c.939A>T	XP_006724177.1:p.Ala313=
XM_006724116.2:c.876A>T	XP_006724179.2:p.Ala292=
XM_011529839.1:c.1578A>T	XP_011528141.1:p.Ala526=
XM_011529840.1:c.1491A>T	XP_011528142.1:p.Ala497=
XM_011529841.1:c.1347A>T	XP_011528143.1:p.Ala449=
XM_011529842.1:c.1248A>T	XP_011528144.1:p.Ala416=
XM_011529843.1:c.1218A>T	XP_011528145.1:p.Ala406=
XM_011529845.1:c.756A>T	XP_011528147.1:p.Ala252=
XR_937805.1:n.1578A>T
NM_001349956.1:c.1218A>T	NP_001336885.1:p.Ala406=
NM_007194.4:c.1419A>T MANE Select	NP_009125.1:p.Ala473=
XM_006724114.3:c.972A>T	XP_006724177.2:p.Ala324=
XM_011529839.2:c.1578A>T	XP_011528141.1:p.Ala526=
XM_011529840.3:c.1491A>T	XP_011528142.1:p.Ala497=
XM_011529842.2:c.1248A>T	XP_011528144.1:p.Ala416=
XM_011529845.2:c.756A>T	XP_011528147.1:p.Ala252=
XM_017028560.1:c.1542A>T	XP_016884049.1:p.Ala514=
XM_017028561.2:c.756A>T	XP_016884050.1:p.Ala252=
XM_024452148.1:c.1449A>T	XP_024307916.1:p.Ala483=
XM_024452149.1:c.1362A>T	XP_024307917.1:p.Ala454=
XR_937805.2:n.1589A>T
NM_001005735.2:c.1548A>T	NP_001005735.1:p.Ala516=
NM_001257387.2:c.756A>T	NP_001244316.1:p.Ala252=
NM_001349956.2:c.1218A>T	NP_001336885.1:p.Ala406=