Canonical Allele Identifier: CA411094520

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 999643
• ClinVar RCV Id: RCV001295664
• dbSNP Id: rs2052473264
• MyVariant Identifiers: chr22:g.29090096A>T (hg19) ; chr22:g.28694108A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694108A>T , CM000684.2:g.28694108A>T	GRCh38
NC_000022.10:g.29090096A>T , CM000684.1:g.29090096A>T	GRCh37
NC_000022.9:g.27420096A>T	NCBI36
NG_008150.1:g.52727T>A
NG_008150.2:g.52759T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*120T>A	ENSP00000518557.1:n.*120T>A
ENST00000402731.6:c.1184T>A	ENSP00000384835.2:p.Leu395His
ENST00000404276.6:c.1385T>A MANE Select	ENSP00000385747.1:p.Leu462His
ENST00000425190.7:c.722T>A	ENSP00000390244.2:p.Leu241His
ENST00000464581.6:c.725T>A	ENSP00000483777.2:p.Leu242His
ENST00000648295.1:n.937T>A
ENST00000649563.1:c.722T>A	ENSP00000496928.1:p.Leu241His
ENST00000650281.1:c.1385T>A	ENSP00000497000.1:p.Leu462His
ENST00000328354.10:c.1385T>A	ENSP00000329178.6:p.Leu462His
ENST00000348295.7:c.1298T>A	ENSP00000329012.5:p.Leu433His
ENST00000382580.6:c.1514T>A	ENSP00000372023.2:p.Leu505His
ENST00000402731.5:c.1298T>A	ENSP00000384835.1:p.Leu433His
ENST00000403642.5:c.1112T>A	ENSP00000384919.1:p.Leu371His
ENST00000404276.5:c.1385T>A	ENSP00000385747.1:p.Leu462His
ENST00000405598.5:c.1385T>A	ENSP00000386087.1:p.Leu462His
ENST00000416671.5:c.*875T>A	ENSP00000402225.1:n.*875T>A
ENST00000417588.5:c.1294T>A	ENSP00000412901.1:n.1294T>A
ENST00000433728.5:c.1323T>A	ENSP00000404400.1:n.1323T>A
ENST00000434810.5:c.583T>A
ENST00000448511.5:c.1275T>A	ENSP00000404567.1:n.1275T>A
ENST00000456369.5:c.264-4893T>A
NM_001005735.1:c.1514T>A	NP_001005735.1:p.Leu505His
NM_001257387.1:c.722T>A	NP_001244316.1:p.Leu241His
NM_007194.3:c.1385T>A	NP_009125.1:p.Leu462His
NM_145862.2:c.1298T>A	NP_665861.1:p.Leu433His
XM_006724114.2:c.905T>A	XP_006724177.1:p.Leu302His
XM_006724116.2:c.842T>A	XP_006724179.2:p.Leu281His
XM_011529839.1:c.1544T>A	XP_011528141.1:p.Leu515His
XM_011529840.1:c.1457T>A	XP_011528142.1:p.Leu486His
XM_011529841.1:c.1313T>A	XP_011528143.1:p.Leu438His
XM_011529842.1:c.1214T>A	XP_011528144.1:p.Leu405His
XM_011529843.1:c.1184T>A	XP_011528145.1:p.Leu395His
XM_011529845.1:c.722T>A	XP_011528147.1:p.Leu241His
XR_937805.1:n.1544T>A
NM_001349956.1:c.1184T>A	NP_001336885.1:p.Leu395His
NM_007194.4:c.1385T>A MANE Select	NP_009125.1:p.Leu462His
XM_006724114.3:c.938T>A	XP_006724177.2:p.Leu313His
XM_011529839.2:c.1544T>A	XP_011528141.1:p.Leu515His
XM_011529840.3:c.1457T>A	XP_011528142.1:p.Leu486His
XM_011529842.2:c.1214T>A	XP_011528144.1:p.Leu405His
XM_011529845.2:c.722T>A	XP_011528147.1:p.Leu241His
XM_017028560.1:c.1508T>A	XP_016884049.1:p.Leu503His
XM_017028561.2:c.722T>A	XP_016884050.1:p.Leu241His
XM_024452148.1:c.1415T>A	XP_024307916.1:p.Leu472His
XM_024452149.1:c.1328T>A	XP_024307917.1:p.Leu443His
XR_937805.2:n.1555T>A
NM_001005735.2:c.1514T>A	NP_001005735.1:p.Leu505His
NM_001257387.2:c.722T>A	NP_001244316.1:p.Leu241His
NM_001349956.2:c.1184T>A	NP_001336885.1:p.Leu395His