Canonical Allele Identifier: CA10167654

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694041C>T , CM000684.2:g.28694041C>T	GRCh38
NC_000022.10:g.29090029C>T , CM000684.1:g.29090029C>T	GRCh37
NC_000022.9:g.27420029C>T	NCBI36
NG_008150.1:g.52794G>A
NG_008150.2:g.52826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*187G>A	ENSP00000518557.1:n.*187G>A
ENST00000402731.6:c.1251G>A	ENSP00000384835.2:p.Pro417=
ENST00000404276.6:c.1452G>A MANE Select	ENSP00000385747.1:p.Pro484=
ENST00000425190.7:c.789G>A	ENSP00000390244.2:p.Pro263=
ENST00000464581.6:c.792G>A	ENSP00000483777.2:p.Pro264=
ENST00000648295.1:n.1004G>A
ENST00000649563.1:c.789G>A	ENSP00000496928.1:p.Pro263=
ENST00000650281.1:c.1452G>A	ENSP00000497000.1:p.Pro484=
ENST00000328354.10:c.1452G>A	ENSP00000329178.6:p.Pro484=
ENST00000348295.7:c.1365G>A	ENSP00000329012.5:p.Pro455=
ENST00000382580.6:c.1581G>A	ENSP00000372023.2:p.Pro527=
ENST00000402731.5:c.1365G>A	ENSP00000384835.1:p.Pro455=
ENST00000403642.5:c.1179G>A	ENSP00000384919.1:p.Pro393=
ENST00000404276.5:c.1452G>A	ENSP00000385747.1:p.Pro484=
ENST00000405598.5:c.1452G>A	ENSP00000386087.1:p.Pro484=
ENST00000416671.5:c.*942G>A	ENSP00000402225.1:n.*942G>A
ENST00000417588.5:c.1361G>A	ENSP00000412901.1:n.1361G>A
ENST00000433728.5:c.1390G>A	ENSP00000404400.1:n.1390G>A
ENST00000434810.5:c.650G>A
ENST00000448511.5:c.1342G>A	ENSP00000404567.1:n.1342G>A
ENST00000456369.5:c.264-4826G>A
NM_001005735.1:c.1581G>A	NP_001005735.1:p.Pro527=
NM_001257387.1:c.789G>A	NP_001244316.1:p.Pro263=
NM_007194.3:c.1452G>A	NP_009125.1:p.Pro484=
NM_145862.2:c.1365G>A	NP_665861.1:p.Pro455=
XM_006724114.2:c.972G>A	XP_006724177.1:p.Pro324=
XM_006724116.2:c.909G>A	XP_006724179.2:p.Pro303=
XM_011529839.1:c.1611G>A	XP_011528141.1:p.Pro537=
XM_011529840.1:c.1524G>A	XP_011528142.1:p.Pro508=
XM_011529841.1:c.1380G>A	XP_011528143.1:p.Pro460=
XM_011529842.1:c.1281G>A	XP_011528144.1:p.Pro427=
XM_011529843.1:c.1251G>A	XP_011528145.1:p.Pro417=
XM_011529845.1:c.789G>A	XP_011528147.1:p.Pro263=
XR_937805.1:n.1611G>A
NM_001349956.1:c.1251G>A	NP_001336885.1:p.Pro417=
NM_007194.4:c.1452G>A MANE Select	NP_009125.1:p.Pro484=
XM_006724114.3:c.1005G>A	XP_006724177.2:p.Pro335=
XM_011529839.2:c.1611G>A	XP_011528141.1:p.Pro537=
XM_011529840.3:c.1524G>A	XP_011528142.1:p.Pro508=
XM_011529842.2:c.1281G>A	XP_011528144.1:p.Pro427=
XM_011529845.2:c.789G>A	XP_011528147.1:p.Pro263=
XM_017028560.1:c.1575G>A	XP_016884049.1:p.Pro525=
XM_017028561.2:c.789G>A	XP_016884050.1:p.Pro263=
XM_024452148.1:c.1482G>A	XP_024307916.1:p.Pro494=
XM_024452149.1:c.1395G>A	XP_024307917.1:p.Pro465=
XR_937805.2:n.1622G>A
NM_001005735.2:c.1581G>A	NP_001005735.1:p.Pro527=
NM_001257387.2:c.789G>A	NP_001244316.1:p.Pro263=
NM_001349956.2:c.1251G>A	NP_001336885.1:p.Pro417=