Canonical Allele Identifier: CA411099261

Gene: CHEK2

Linked Data

• dbSNP Id: rs201544715
• MyVariant Identifiers: chr22:g.29095826C>A (hg19) ; chr22:g.28699838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699838C>A , CM000684.2:g.28699838C>A	GRCh38
NC_000022.10:g.29095826C>A , CM000684.1:g.29095826C>A	GRCh37
NC_000022.9:g.27425826C>A	NCBI36
NG_008150.1:g.46997G>T
NG_008150.2:g.47029G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.917G>T	ENSP00000396903.2:n.917G>T
ENST00000711048.1:c.1008G>T	ENSP00000518557.1:p.Gln336His
ENST00000402731.6:c.807G>T	ENSP00000384835.2:p.Gln269His
ENST00000404276.6:c.1008G>T MANE Select	ENSP00000385747.1:p.Gln336His
ENST00000425190.7:c.345G>T	ENSP00000390244.2:p.Gln115His
ENST00000464581.6:c.348G>T	ENSP00000483777.2:p.Gln116His
ENST00000648295.1:n.560G>T
ENST00000649563.1:c.345G>T	ENSP00000496928.1:p.Gln115His
ENST00000650281.1:c.1008G>T	ENSP00000497000.1:p.Gln336His
ENST00000328354.10:c.1008G>T	ENSP00000329178.6:p.Gln336His
ENST00000348295.7:c.1008G>T	ENSP00000329012.5:p.Gln336His
ENST00000382580.6:c.1137G>T	ENSP00000372023.2:p.Gln379His
ENST00000402731.5:c.1008G>T	ENSP00000384835.1:p.Gln336His
ENST00000403642.5:c.735G>T	ENSP00000384919.1:p.Gln245His
ENST00000404276.5:c.1008G>T	ENSP00000385747.1:p.Gln336His
ENST00000405598.5:c.1008G>T	ENSP00000386087.1:p.Gln336His
ENST00000416671.5:c.*498G>T	ENSP00000402225.1:n.*498G>T
ENST00000417588.5:c.917G>T	ENSP00000412901.1:n.917G>T
ENST00000425190.6:c.345G>T	ENSP00000390244.1:p.Gln115His
ENST00000433028.6:c.*733G>T	ENSP00000403659.1:n.*733G>T
ENST00000433728.5:c.946G>T	ENSP00000404400.1:n.946G>T
ENST00000434810.5:c.239G>T
ENST00000439346.5:c.479G>T	ENSP00000396903.1:n.479G>T
ENST00000447421.5:c.807G>T	ENSP00000397478.2:p.Gln269His
ENST00000448511.5:c.898G>T	ENSP00000404567.1:n.898G>T
ENST00000456369.5:c.263G>T
ENST00000464581.5:c.348G>T	ENSP00000483777.1:p.Gln116His
ENST00000491919.5:n.565G>T
NM_001005735.1:c.1137G>T	NP_001005735.1:p.Gln379His
NM_001257387.1:c.345G>T	NP_001244316.1:p.Gln115His
NM_007194.3:c.1008G>T	NP_009125.1:p.Gln336His
NM_145862.2:c.1008G>T	NP_665861.1:p.Gln336His
XM_006724114.2:c.528G>T	XP_006724177.1:p.Gln176His
XM_006724116.2:c.465G>T	XP_006724179.2:p.Gln155His
XM_011529839.1:c.1167G>T	XP_011528141.1:p.Gln389His
XM_011529840.1:c.1167G>T	XP_011528142.1:p.Gln389His
XM_011529841.1:c.936G>T	XP_011528143.1:p.Gln312His
XM_011529842.1:c.837G>T	XP_011528144.1:p.Gln279His
XM_011529843.1:c.807G>T	XP_011528145.1:p.Gln269His
XM_011529844.1:c.1167G>T	XP_011528146.1:p.Gln389His
XM_011529845.1:c.345G>T	XP_011528147.1:p.Gln115His
XR_937805.1:n.1167G>T
XR_937806.1:n.1162G>T
XR_937807.1:n.1162G>T
NM_001349956.1:c.807G>T	NP_001336885.1:p.Gln269His
NM_007194.4:c.1008G>T MANE Select	NP_009125.1:p.Gln336His
XM_006724114.3:c.561G>T	XP_006724177.2:p.Gln187His
XM_011529839.2:c.1167G>T	XP_011528141.1:p.Gln389His
XM_011529840.3:c.1167G>T	XP_011528142.1:p.Gln389His
XM_011529842.2:c.837G>T	XP_011528144.1:p.Gln279His
XM_011529844.2:c.1167G>T	XP_011528146.1:p.Gln389His
XM_011529845.2:c.345G>T	XP_011528147.1:p.Gln115His
XM_017028560.1:c.1131G>T	XP_016884049.1:p.Gln377His
XM_017028561.2:c.345G>T	XP_016884050.1:p.Gln115His
XM_024452148.1:c.1038G>T	XP_024307916.1:p.Gln346His
XM_024452149.1:c.1038G>T	XP_024307917.1:p.Gln346His
XR_937805.2:n.1178G>T
XR_937806.2:n.1178G>T
XR_937807.2:n.1178G>T
NM_001005735.2:c.1137G>T	NP_001005735.1:p.Gln379His
NM_001257387.2:c.345G>T	NP_001244316.1:p.Gln115His
NM_001349956.2:c.807G>T	NP_001336885.1:p.Gln269His