Canonical Allele Identifier: CA513944986

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092940T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696952T>C , CM000684.2:g.28696952T>C	GRCh38
NC_000022.10:g.29092940T>C , CM000684.1:g.29092940T>C	GRCh37
NC_000022.9:g.27422940T>C	NCBI36
NG_008150.1:g.49883A>G
NG_008150.2:g.49915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1710A>G	ENSP00000518557.1:n.1009-1710A>G
ENST00000402731.6:c.843A>G	ENSP00000384835.2:p.Leu281=
ENST00000404276.6:c.1044A>G MANE Select	ENSP00000385747.1:p.Leu348=
ENST00000425190.7:c.381A>G	ENSP00000390244.2:p.Leu127=
ENST00000464581.6:c.384A>G	ENSP00000483777.2:p.Leu128=
ENST00000648295.1:n.596A>G
ENST00000649563.1:c.381A>G	ENSP00000496928.1:p.Leu127=
ENST00000650281.1:c.1044A>G	ENSP00000497000.1:p.Leu348=
ENST00000328354.10:c.1044A>G	ENSP00000329178.6:p.Leu348=
ENST00000348295.7:c.1009-1079A>G	ENSP00000329012.5:n.1009-1079A>G
ENST00000382580.6:c.1173A>G	ENSP00000372023.2:p.Leu391=
ENST00000402731.5:c.1009-1079A>G	ENSP00000384835.1:n.1009-1079A>G
ENST00000403642.5:c.771A>G	ENSP00000384919.1:p.Leu257=
ENST00000404276.5:c.1044A>G	ENSP00000385747.1:p.Leu348=
ENST00000405598.5:c.1044A>G	ENSP00000386087.1:p.Leu348=
ENST00000416671.5:c.*534A>G	ENSP00000402225.1:n.*534A>G
ENST00000417588.5:c.953A>G	ENSP00000412901.1:n.953A>G
ENST00000433028.6:c.*769A>G	ENSP00000403659.1:n.*769A>G
ENST00000433728.5:c.982A>G	ENSP00000404400.1:n.982A>G
ENST00000434810.5:c.275A>G
ENST00000447421.5:c.843A>G	ENSP00000397478.2:p.Leu281=
ENST00000448511.5:c.934A>G	ENSP00000404567.1:n.934A>G
ENST00000456369.5:c.263+2886A>G
ENST00000464581.5:c.384A>G	ENSP00000483777.1:p.Leu128=
ENST00000491919.5:n.601A>G
NM_001005735.1:c.1173A>G	NP_001005735.1:p.Leu391=
NM_001257387.1:c.381A>G	NP_001244316.1:p.Leu127=
NM_007194.3:c.1044A>G	NP_009125.1:p.Leu348=
NM_145862.2:c.1009-1079A>G	NP_665861.1:n.1009-1079A>G
XM_006724114.2:c.564A>G	XP_006724177.1:p.Leu188=
XM_006724116.2:c.501A>G	XP_006724179.2:p.Leu167=
XM_011529839.1:c.1203A>G	XP_011528141.1:p.Leu401=
XM_011529840.1:c.1168-1079A>G	XP_011528142.1:n.1168-1079A>G
XM_011529841.1:c.972A>G	XP_011528143.1:p.Leu324=
XM_011529842.1:c.873A>G	XP_011528144.1:p.Leu291=
XM_011529843.1:c.843A>G	XP_011528145.1:p.Leu281=
XM_011529845.1:c.381A>G	XP_011528147.1:p.Leu127=
XR_937805.1:n.1203A>G
XR_937806.1:n.1163-1079A>G
NM_001349956.1:c.843A>G	NP_001336885.1:p.Leu281=
NM_007194.4:c.1044A>G MANE Select	NP_009125.1:p.Leu348=
XM_006724114.3:c.597A>G	XP_006724177.2:p.Leu199=
XM_011529839.2:c.1203A>G	XP_011528141.1:p.Leu401=
XM_011529840.3:c.1168-1079A>G	XP_011528142.1:n.1168-1079A>G
XM_011529842.2:c.873A>G	XP_011528144.1:p.Leu291=
XM_011529845.2:c.381A>G	XP_011528147.1:p.Leu127=
XM_017028560.1:c.1167A>G	XP_016884049.1:p.Leu389=
XM_017028561.2:c.381A>G	XP_016884050.1:p.Leu127=
XM_024452148.1:c.1074A>G	XP_024307916.1:p.Leu358=
XM_024452149.1:c.1039-1079A>G	XP_024307917.1:n.1039-1079A>G
XR_937805.2:n.1214A>G
XR_937806.2:n.1179-1079A>G
NM_001005735.2:c.1173A>G	NP_001005735.1:p.Leu391=
NM_001257387.2:c.381A>G	NP_001244316.1:p.Leu127=
NM_001349956.2:c.843A>G	NP_001336885.1:p.Leu281=