Canonical Allele Identifier: CA411097658

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29092933C>A (hg19) ; chr22:g.28696945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696945C>A , CM000684.2:g.28696945C>A	GRCh38
NC_000022.10:g.29092933C>A , CM000684.1:g.29092933C>A	GRCh37
NC_000022.9:g.27422933C>A	NCBI36
NG_008150.1:g.49890G>T
NG_008150.2:g.49922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1703G>T	ENSP00000518557.1:n.1009-1703G>T
ENST00000402731.6:c.850G>T	ENSP00000384835.2:p.Glu284Ter
ENST00000404276.6:c.1051G>T MANE Select	ENSP00000385747.1:p.Glu351Ter
ENST00000425190.7:c.388G>T	ENSP00000390244.2:p.Glu130Ter
ENST00000464581.6:c.391G>T	ENSP00000483777.2:p.Glu131Ter
ENST00000648295.1:n.603G>T
ENST00000649563.1:c.388G>T	ENSP00000496928.1:p.Glu130Ter
ENST00000650281.1:c.1051G>T	ENSP00000497000.1:p.Glu351Ter
ENST00000328354.10:c.1051G>T	ENSP00000329178.6:p.Glu351Ter
ENST00000348295.7:c.1009-1072G>T	ENSP00000329012.5:n.1009-1072G>T
ENST00000382580.6:c.1180G>T	ENSP00000372023.2:p.Glu394Ter
ENST00000402731.5:c.1009-1072G>T	ENSP00000384835.1:n.1009-1072G>T
ENST00000403642.5:c.778G>T	ENSP00000384919.1:p.Glu260Ter
ENST00000404276.5:c.1051G>T	ENSP00000385747.1:p.Glu351Ter
ENST00000405598.5:c.1051G>T	ENSP00000386087.1:p.Glu351Ter
ENST00000416671.5:c.*541G>T	ENSP00000402225.1:n.*541G>T
ENST00000417588.5:c.960G>T	ENSP00000412901.1:n.960G>T
ENST00000433028.6:c.*776G>T	ENSP00000403659.1:n.*776G>T
ENST00000433728.5:c.989G>T	ENSP00000404400.1:n.989G>T
ENST00000434810.5:c.282G>T
ENST00000447421.5:c.850G>T	ENSP00000397478.2:p.Glu284Ter
ENST00000448511.5:c.941G>T	ENSP00000404567.1:n.941G>T
ENST00000456369.5:c.263+2893G>T
ENST00000464581.5:c.391G>T	ENSP00000483777.1:p.Glu131Ter
ENST00000491919.5:n.608G>T
NM_001005735.1:c.1180G>T	NP_001005735.1:p.Glu394Ter
NM_001257387.1:c.388G>T	NP_001244316.1:p.Glu130Ter
NM_007194.3:c.1051G>T	NP_009125.1:p.Glu351Ter
NM_145862.2:c.1009-1072G>T	NP_665861.1:n.1009-1072G>T
XM_006724114.2:c.571G>T	XP_006724177.1:p.Glu191Ter
XM_006724116.2:c.508G>T	XP_006724179.2:p.Glu170Ter
XM_011529839.1:c.1210G>T	XP_011528141.1:p.Glu404Ter
XM_011529840.1:c.1168-1072G>T	XP_011528142.1:n.1168-1072G>T
XM_011529841.1:c.979G>T	XP_011528143.1:p.Glu327Ter
XM_011529842.1:c.880G>T	XP_011528144.1:p.Glu294Ter
XM_011529843.1:c.850G>T	XP_011528145.1:p.Glu284Ter
XM_011529845.1:c.388G>T	XP_011528147.1:p.Glu130Ter
XR_937805.1:n.1210G>T
XR_937806.1:n.1163-1072G>T
NM_001349956.1:c.850G>T	NP_001336885.1:p.Glu284Ter
NM_007194.4:c.1051G>T MANE Select	NP_009125.1:p.Glu351Ter
XM_006724114.3:c.604G>T	XP_006724177.2:p.Glu202Ter
XM_011529839.2:c.1210G>T	XP_011528141.1:p.Glu404Ter
XM_011529840.3:c.1168-1072G>T	XP_011528142.1:n.1168-1072G>T
XM_011529842.2:c.880G>T	XP_011528144.1:p.Glu294Ter
XM_011529845.2:c.388G>T	XP_011528147.1:p.Glu130Ter
XM_017028560.1:c.1174G>T	XP_016884049.1:p.Glu392Ter
XM_017028561.2:c.388G>T	XP_016884050.1:p.Glu130Ter
XM_024452148.1:c.1081G>T	XP_024307916.1:p.Glu361Ter
XM_024452149.1:c.1039-1072G>T	XP_024307917.1:n.1039-1072G>T
XR_937805.2:n.1221G>T
XR_937806.2:n.1179-1072G>T
NM_001005735.2:c.1180G>T	NP_001005735.1:p.Glu394Ter
NM_001257387.2:c.388G>T	NP_001244316.1:p.Glu130Ter
NM_001349956.2:c.850G>T	NP_001336885.1:p.Glu284Ter