Canonical Allele Identifier: CA411096742

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1356086
• ClinVar RCV Id: RCV001880345 ; RCV002343896
• dbSNP Id: rs1435731482
• gnomAD v4: 22-28695761-C-T
• MyVariant Identifiers: chr22:g.29091749C>T (hg19) ; chr22:g.28695761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695761C>T , CM000684.2:g.28695761C>T	GRCh38
NC_000022.10:g.29091749C>T , CM000684.1:g.29091749C>T	GRCh37
NC_000022.9:g.27421749C>T	NCBI36
NG_008150.1:g.51074G>A
NG_008150.2:g.51106G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-519G>A	ENSP00000518557.1:n.1009-519G>A
ENST00000402731.6:c.1007G>A	ENSP00000384835.2:p.Gly336Glu
ENST00000404276.6:c.1208G>A MANE Select	ENSP00000385747.1:p.Gly403Glu
ENST00000425190.7:c.545G>A	ENSP00000390244.2:p.Gly182Glu
ENST00000464581.6:c.548G>A	ENSP00000483777.2:p.Gly183Glu
ENST00000648295.1:n.760G>A
ENST00000649563.1:c.545G>A	ENSP00000496928.1:p.Gly182Glu
ENST00000650281.1:c.1208G>A	ENSP00000497000.1:p.Gly403Glu
ENST00000328354.10:c.1208G>A	ENSP00000329178.6:p.Gly403Glu
ENST00000348295.7:c.1121G>A	ENSP00000329012.5:p.Gly374Glu
ENST00000382580.6:c.1337G>A	ENSP00000372023.2:p.Gly446Glu
ENST00000402731.5:c.1121G>A	ENSP00000384835.1:p.Gly374Glu
ENST00000403642.5:c.935G>A	ENSP00000384919.1:p.Gly312Glu
ENST00000404276.5:c.1208G>A	ENSP00000385747.1:p.Gly403Glu
ENST00000405598.5:c.1208G>A	ENSP00000386087.1:p.Gly403Glu
ENST00000416671.5:c.*698G>A	ENSP00000402225.1:n.*698G>A
ENST00000417588.5:c.1117G>A	ENSP00000412901.1:n.1117G>A
ENST00000433728.5:c.1146G>A	ENSP00000404400.1:n.1146G>A
ENST00000434810.5:c.439G>A
ENST00000448511.5:c.1098G>A	ENSP00000404567.1:n.1098G>A
ENST00000456369.5:c.263+4077G>A
NM_001005735.1:c.1337G>A	NP_001005735.1:p.Gly446Glu
NM_001257387.1:c.545G>A	NP_001244316.1:p.Gly182Glu
NM_007194.3:c.1208G>A	NP_009125.1:p.Gly403Glu
NM_145862.2:c.1121G>A	NP_665861.1:p.Gly374Glu
XM_006724114.2:c.728G>A	XP_006724177.1:p.Gly243Glu
XM_006724116.2:c.665G>A	XP_006724179.2:p.Gly222Glu
XM_011529839.1:c.1367G>A	XP_011528141.1:p.Gly456Glu
XM_011529840.1:c.1280G>A	XP_011528142.1:p.Gly427Glu
XM_011529841.1:c.1136G>A	XP_011528143.1:p.Gly379Glu
XM_011529842.1:c.1037G>A	XP_011528144.1:p.Gly346Glu
XM_011529843.1:c.1007G>A	XP_011528145.1:p.Gly336Glu
XM_011529845.1:c.545G>A	XP_011528147.1:p.Gly182Glu
XR_937805.1:n.1367G>A
NM_001349956.1:c.1007G>A	NP_001336885.1:p.Gly336Glu
NM_007194.4:c.1208G>A MANE Select	NP_009125.1:p.Gly403Glu
XM_006724114.3:c.761G>A	XP_006724177.2:p.Gly254Glu
XM_011529839.2:c.1367G>A	XP_011528141.1:p.Gly456Glu
XM_011529840.3:c.1280G>A	XP_011528142.1:p.Gly427Glu
XM_011529842.2:c.1037G>A	XP_011528144.1:p.Gly346Glu
XM_011529845.2:c.545G>A	XP_011528147.1:p.Gly182Glu
XM_017028560.1:c.1331G>A	XP_016884049.1:p.Gly444Glu
XM_017028561.2:c.545G>A	XP_016884050.1:p.Gly182Glu
XM_024452148.1:c.1238G>A	XP_024307916.1:p.Gly413Glu
XM_024452149.1:c.1151G>A	XP_024307917.1:p.Gly384Glu
XR_937805.2:n.1378G>A
NM_001005735.2:c.1337G>A	NP_001005735.1:p.Gly446Glu
NM_001257387.2:c.545G>A	NP_001244316.1:p.Gly182Glu
NM_001349956.2:c.1007G>A	NP_001336885.1:p.Gly336Glu