Canonical Allele Identifier: CA411092422

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 819397
• ClinVar RCV Id: RCV001011922
• dbSNP Id: rs1601702134
• MyVariant Identifiers: chr22:g.29085163T>A (hg19) ; chr22:g.28689175T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689175T>A , CM000684.2:g.28689175T>A	GRCh38
NC_000022.10:g.29085163T>A , CM000684.1:g.29085163T>A	GRCh37
NC_000022.9:g.27415163T>A	NCBI36
NG_008150.1:g.57660A>T
NG_008150.2:g.57692A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*237A>T	ENSP00000518557.1:n.*237A>T
ENST00000402731.6:c.1301A>T	ENSP00000384835.2:p.Glu434Val
ENST00000404276.6:c.1502A>T MANE Select	ENSP00000385747.1:p.Glu501Val
ENST00000425190.7:c.839A>T	ENSP00000390244.2:p.Glu280Val
ENST00000464581.6:c.842A>T	ENSP00000483777.2:p.Glu281Val
ENST00000648295.1:n.1054A>T
ENST00000649563.1:c.839A>T	ENSP00000496928.1:p.Glu280Val
ENST00000650281.1:c.1502A>T	ENSP00000497000.1:p.Glu501Val
ENST00000328354.10:c.1502A>T	ENSP00000329178.6:p.Glu501Val
ENST00000348295.7:c.1415A>T	ENSP00000329012.5:p.Glu472Val
ENST00000382580.6:c.1631A>T	ENSP00000372023.2:p.Glu544Val
ENST00000402731.5:c.1415A>T	ENSP00000384835.1:p.Glu472Val
ENST00000403642.5:c.1229A>T	ENSP00000384919.1:p.Glu410Val
ENST00000404276.5:c.1502A>T	ENSP00000385747.1:p.Glu501Val
ENST00000405598.5:c.1502A>T	ENSP00000386087.1:p.Glu501Val
ENST00000416671.5:c.*992A>T	ENSP00000402225.1:n.*992A>T
ENST00000417588.5:c.1411A>T	ENSP00000412901.1:n.1411A>T
ENST00000433728.5:c.1440A>T	ENSP00000404400.1:n.1440A>T
ENST00000434810.5:c.700A>T
ENST00000448511.5:c.1392A>T	ENSP00000404567.1:n.1392A>T
ENST00000456369.5:c.304A>T
ENST00000472807.1:n.236A>T
NM_001005735.1:c.1631A>T	NP_001005735.1:p.Glu544Val
NM_001257387.1:c.839A>T	NP_001244316.1:p.Glu280Val
NM_007194.3:c.1502A>T	NP_009125.1:p.Glu501Val
NM_145862.2:c.1415A>T	NP_665861.1:p.Glu472Val
XM_006724114.2:c.1022A>T	XP_006724177.1:p.Glu341Val
XM_006724116.2:c.959A>T	XP_006724179.2:p.Glu320Val
XM_011529839.1:c.1661A>T	XP_011528141.1:p.Glu554Val
XM_011529840.1:c.1574A>T	XP_011528142.1:p.Glu525Val
XM_011529841.1:c.1430A>T	XP_011528143.1:p.Glu477Val
XM_011529842.1:c.1331A>T	XP_011528144.1:p.Glu444Val
XM_011529843.1:c.1301A>T	XP_011528145.1:p.Glu434Val
XM_011529845.1:c.839A>T	XP_011528147.1:p.Glu280Val
XR_937805.1:n.1661A>T
NM_001349956.1:c.1301A>T	NP_001336885.1:p.Glu434Val
NM_007194.4:c.1502A>T MANE Select	NP_009125.1:p.Glu501Val
XM_006724114.3:c.1055A>T	XP_006724177.2:p.Glu352Val
XM_011529839.2:c.1661A>T	XP_011528141.1:p.Glu554Val
XM_011529840.3:c.1574A>T	XP_011528142.1:p.Glu525Val
XM_011529842.2:c.1331A>T	XP_011528144.1:p.Glu444Val
XM_011529845.2:c.839A>T	XP_011528147.1:p.Glu280Val
XM_017028560.1:c.1625A>T	XP_016884049.1:p.Glu542Val
XM_017028561.2:c.839A>T	XP_016884050.1:p.Glu280Val
XM_024452148.1:c.1532A>T	XP_024307916.1:p.Glu511Val
XM_024452149.1:c.1445A>T	XP_024307917.1:p.Glu482Val
XR_937805.2:n.1672A>T
NM_001005735.2:c.1631A>T	NP_001005735.1:p.Glu544Val
NM_001257387.2:c.839A>T	NP_001244316.1:p.Glu280Val
NM_001349956.2:c.1301A>T	NP_001336885.1:p.Glu434Val