Canonical Allele Identifier: CA411094248

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1039460
• ClinVar RCV Id: RCV001342939
• dbSNP Id: rs2052468962
• MyVariant Identifiers: chr22:g.29090055T>G (hg19) ; chr22:g.28694067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694067T>G , CM000684.2:g.28694067T>G	GRCh38
NC_000022.10:g.29090055T>G , CM000684.1:g.29090055T>G	GRCh37
NC_000022.9:g.27420055T>G	NCBI36
NG_008150.1:g.52768A>C
NG_008150.2:g.52800A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*161A>C	ENSP00000518557.1:n.*161A>C
ENST00000402731.6:c.1225A>C	ENSP00000384835.2:p.Thr409Pro
ENST00000404276.6:c.1426A>C MANE Select	ENSP00000385747.1:p.Thr476Pro
ENST00000425190.7:c.763A>C	ENSP00000390244.2:p.Thr255Pro
ENST00000464581.6:c.766A>C	ENSP00000483777.2:p.Thr256Pro
ENST00000648295.1:n.978A>C
ENST00000649563.1:c.763A>C	ENSP00000496928.1:p.Thr255Pro
ENST00000650281.1:c.1426A>C	ENSP00000497000.1:p.Thr476Pro
ENST00000328354.10:c.1426A>C	ENSP00000329178.6:p.Thr476Pro
ENST00000348295.7:c.1339A>C	ENSP00000329012.5:p.Thr447Pro
ENST00000382580.6:c.1555A>C	ENSP00000372023.2:p.Thr519Pro
ENST00000402731.5:c.1339A>C	ENSP00000384835.1:p.Thr447Pro
ENST00000403642.5:c.1153A>C	ENSP00000384919.1:p.Thr385Pro
ENST00000404276.5:c.1426A>C	ENSP00000385747.1:p.Thr476Pro
ENST00000405598.5:c.1426A>C	ENSP00000386087.1:p.Thr476Pro
ENST00000416671.5:c.*916A>C	ENSP00000402225.1:n.*916A>C
ENST00000417588.5:c.1335A>C	ENSP00000412901.1:n.1335A>C
ENST00000433728.5:c.1364A>C	ENSP00000404400.1:n.1364A>C
ENST00000434810.5:c.624A>C
ENST00000448511.5:c.1316A>C	ENSP00000404567.1:n.1316A>C
ENST00000456369.5:c.264-4852A>C
NM_001005735.1:c.1555A>C	NP_001005735.1:p.Thr519Pro
NM_001257387.1:c.763A>C	NP_001244316.1:p.Thr255Pro
NM_007194.3:c.1426A>C	NP_009125.1:p.Thr476Pro
NM_145862.2:c.1339A>C	NP_665861.1:p.Thr447Pro
XM_006724114.2:c.946A>C	XP_006724177.1:p.Thr316Pro
XM_006724116.2:c.883A>C	XP_006724179.2:p.Thr295Pro
XM_011529839.1:c.1585A>C	XP_011528141.1:p.Thr529Pro
XM_011529840.1:c.1498A>C	XP_011528142.1:p.Thr500Pro
XM_011529841.1:c.1354A>C	XP_011528143.1:p.Thr452Pro
XM_011529842.1:c.1255A>C	XP_011528144.1:p.Thr419Pro
XM_011529843.1:c.1225A>C	XP_011528145.1:p.Thr409Pro
XM_011529845.1:c.763A>C	XP_011528147.1:p.Thr255Pro
XR_937805.1:n.1585A>C
NM_001349956.1:c.1225A>C	NP_001336885.1:p.Thr409Pro
NM_007194.4:c.1426A>C MANE Select	NP_009125.1:p.Thr476Pro
XM_006724114.3:c.979A>C	XP_006724177.2:p.Thr327Pro
XM_011529839.2:c.1585A>C	XP_011528141.1:p.Thr529Pro
XM_011529840.3:c.1498A>C	XP_011528142.1:p.Thr500Pro
XM_011529842.2:c.1255A>C	XP_011528144.1:p.Thr419Pro
XM_011529845.2:c.763A>C	XP_011528147.1:p.Thr255Pro
XM_017028560.1:c.1549A>C	XP_016884049.1:p.Thr517Pro
XM_017028561.2:c.763A>C	XP_016884050.1:p.Thr255Pro
XM_024452148.1:c.1456A>C	XP_024307916.1:p.Thr486Pro
XM_024452149.1:c.1369A>C	XP_024307917.1:p.Thr457Pro
XR_937805.2:n.1596A>C
NM_001005735.2:c.1555A>C	NP_001005735.1:p.Thr519Pro
NM_001257387.2:c.763A>C	NP_001244316.1:p.Thr255Pro
NM_001349956.2:c.1225A>C	NP_001336885.1:p.Thr409Pro