Canonical Allele Identifier: CA411094322

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.29090067T>A (hg19) ; chr22:g.28694079T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694079T>A , CM000684.2:g.28694079T>A	GRCh38
NC_000022.10:g.29090067T>A , CM000684.1:g.29090067T>A	GRCh37
NC_000022.9:g.27420067T>A	NCBI36
NG_008150.1:g.52756A>T
NG_008150.2:g.52788A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*149A>T	ENSP00000518557.1:n.*149A>T
ENST00000402731.6:c.1213A>T	ENSP00000384835.2:p.Lys405Ter
ENST00000404276.6:c.1414A>T MANE Select	ENSP00000385747.1:p.Lys472Ter
ENST00000425190.7:c.751A>T	ENSP00000390244.2:p.Lys251Ter
ENST00000464581.6:c.754A>T	ENSP00000483777.2:p.Lys252Ter
ENST00000648295.1:n.966A>T
ENST00000649563.1:c.751A>T	ENSP00000496928.1:p.Lys251Ter
ENST00000650281.1:c.1414A>T	ENSP00000497000.1:p.Lys472Ter
ENST00000328354.10:c.1414A>T	ENSP00000329178.6:p.Lys472Ter
ENST00000348295.7:c.1327A>T	ENSP00000329012.5:p.Lys443Ter
ENST00000382580.6:c.1543A>T	ENSP00000372023.2:p.Lys515Ter
ENST00000402731.5:c.1327A>T	ENSP00000384835.1:p.Lys443Ter
ENST00000403642.5:c.1141A>T	ENSP00000384919.1:p.Lys381Ter
ENST00000404276.5:c.1414A>T	ENSP00000385747.1:p.Lys472Ter
ENST00000405598.5:c.1414A>T	ENSP00000386087.1:p.Lys472Ter
ENST00000416671.5:c.*904A>T	ENSP00000402225.1:n.*904A>T
ENST00000417588.5:c.1323A>T	ENSP00000412901.1:n.1323A>T
ENST00000433728.5:c.1352A>T	ENSP00000404400.1:n.1352A>T
ENST00000434810.5:c.612A>T
ENST00000448511.5:c.1304A>T	ENSP00000404567.1:n.1304A>T
ENST00000456369.5:c.264-4864A>T
NM_001005735.1:c.1543A>T	NP_001005735.1:p.Lys515Ter
NM_001257387.1:c.751A>T	NP_001244316.1:p.Lys251Ter
NM_007194.3:c.1414A>T	NP_009125.1:p.Lys472Ter
NM_145862.2:c.1327A>T	NP_665861.1:p.Lys443Ter
XM_006724114.2:c.934A>T	XP_006724177.1:p.Lys312Ter
XM_006724116.2:c.871A>T	XP_006724179.2:p.Lys291Ter
XM_011529839.1:c.1573A>T	XP_011528141.1:p.Lys525Ter
XM_011529840.1:c.1486A>T	XP_011528142.1:p.Lys496Ter
XM_011529841.1:c.1342A>T	XP_011528143.1:p.Lys448Ter
XM_011529842.1:c.1243A>T	XP_011528144.1:p.Lys415Ter
XM_011529843.1:c.1213A>T	XP_011528145.1:p.Lys405Ter
XM_011529845.1:c.751A>T	XP_011528147.1:p.Lys251Ter
XR_937805.1:n.1573A>T
NM_001349956.1:c.1213A>T	NP_001336885.1:p.Lys405Ter
NM_007194.4:c.1414A>T MANE Select	NP_009125.1:p.Lys472Ter
XM_006724114.3:c.967A>T	XP_006724177.2:p.Lys323Ter
XM_011529839.2:c.1573A>T	XP_011528141.1:p.Lys525Ter
XM_011529840.3:c.1486A>T	XP_011528142.1:p.Lys496Ter
XM_011529842.2:c.1243A>T	XP_011528144.1:p.Lys415Ter
XM_011529845.2:c.751A>T	XP_011528147.1:p.Lys251Ter
XM_017028560.1:c.1537A>T	XP_016884049.1:p.Lys513Ter
XM_017028561.2:c.751A>T	XP_016884050.1:p.Lys251Ter
XM_024452148.1:c.1444A>T	XP_024307916.1:p.Lys482Ter
XM_024452149.1:c.1357A>T	XP_024307917.1:p.Lys453Ter
XR_937805.2:n.1584A>T
NM_001005735.2:c.1543A>T	NP_001005735.1:p.Lys515Ter
NM_001257387.2:c.751A>T	NP_001244316.1:p.Lys251Ter
NM_001349956.2:c.1213A>T	NP_001336885.1:p.Lys405Ter