Canonical Allele Identifier: CA411092486

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29085174A>C (hg19) ; chr22:g.28689186A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689186A>C , CM000684.2:g.28689186A>C	GRCh38
NC_000022.10:g.29085174A>C , CM000684.1:g.29085174A>C	GRCh37
NC_000022.9:g.27415174A>C	NCBI36
NG_008150.1:g.57649T>G
NG_008150.2:g.57681T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*226T>G	ENSP00000518557.1:n.*226T>G
ENST00000402731.6:c.1290T>G	ENSP00000384835.2:p.Asp430Glu
ENST00000404276.6:c.1491T>G MANE Select	ENSP00000385747.1:p.Asp497Glu
ENST00000425190.7:c.828T>G	ENSP00000390244.2:p.Asp276Glu
ENST00000464581.6:c.831T>G	ENSP00000483777.2:p.Asp277Glu
ENST00000648295.1:n.1043T>G
ENST00000649563.1:c.828T>G	ENSP00000496928.1:p.Asp276Glu
ENST00000650281.1:c.1491T>G	ENSP00000497000.1:p.Asp497Glu
ENST00000328354.10:c.1491T>G	ENSP00000329178.6:p.Asp497Glu
ENST00000348295.7:c.1404T>G	ENSP00000329012.5:p.Asp468Glu
ENST00000382580.6:c.1620T>G	ENSP00000372023.2:p.Asp540Glu
ENST00000402731.5:c.1404T>G	ENSP00000384835.1:p.Asp468Glu
ENST00000403642.5:c.1218T>G	ENSP00000384919.1:p.Asp406Glu
ENST00000404276.5:c.1491T>G	ENSP00000385747.1:p.Asp497Glu
ENST00000405598.5:c.1491T>G	ENSP00000386087.1:p.Asp497Glu
ENST00000416671.5:c.*981T>G	ENSP00000402225.1:n.*981T>G
ENST00000417588.5:c.1400T>G	ENSP00000412901.1:n.1400T>G
ENST00000433728.5:c.1429T>G	ENSP00000404400.1:n.1429T>G
ENST00000434810.5:c.689T>G
ENST00000448511.5:c.1381T>G	ENSP00000404567.1:n.1381T>G
ENST00000456369.5:c.293T>G
ENST00000472807.1:n.225T>G
NM_001005735.1:c.1620T>G	NP_001005735.1:p.Asp540Glu
NM_001257387.1:c.828T>G	NP_001244316.1:p.Asp276Glu
NM_007194.3:c.1491T>G	NP_009125.1:p.Asp497Glu
NM_145862.2:c.1404T>G	NP_665861.1:p.Asp468Glu
XM_006724114.2:c.1011T>G	XP_006724177.1:p.Asp337Glu
XM_006724116.2:c.948T>G	XP_006724179.2:p.Asp316Glu
XM_011529839.1:c.1650T>G	XP_011528141.1:p.Asp550Glu
XM_011529840.1:c.1563T>G	XP_011528142.1:p.Asp521Glu
XM_011529841.1:c.1419T>G	XP_011528143.1:p.Asp473Glu
XM_011529842.1:c.1320T>G	XP_011528144.1:p.Asp440Glu
XM_011529843.1:c.1290T>G	XP_011528145.1:p.Asp430Glu
XM_011529845.1:c.828T>G	XP_011528147.1:p.Asp276Glu
XR_937805.1:n.1650T>G
NM_001349956.1:c.1290T>G	NP_001336885.1:p.Asp430Glu
NM_007194.4:c.1491T>G MANE Select	NP_009125.1:p.Asp497Glu
XM_006724114.3:c.1044T>G	XP_006724177.2:p.Asp348Glu
XM_011529839.2:c.1650T>G	XP_011528141.1:p.Asp550Glu
XM_011529840.3:c.1563T>G	XP_011528142.1:p.Asp521Glu
XM_011529842.2:c.1320T>G	XP_011528144.1:p.Asp440Glu
XM_011529845.2:c.828T>G	XP_011528147.1:p.Asp276Glu
XM_017028560.1:c.1614T>G	XP_016884049.1:p.Asp538Glu
XM_017028561.2:c.828T>G	XP_016884050.1:p.Asp276Glu
XM_024452148.1:c.1521T>G	XP_024307916.1:p.Asp507Glu
XM_024452149.1:c.1434T>G	XP_024307917.1:p.Asp478Glu
XR_937805.2:n.1661T>G
NM_001005735.2:c.1620T>G	NP_001005735.1:p.Asp540Glu
NM_001257387.2:c.828T>G	NP_001244316.1:p.Asp276Glu
NM_001349956.2:c.1290T>G	NP_001336885.1:p.Asp430Glu