Canonical Allele Identifier: CA411094356

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1468447
• ClinVar RCV Id: RCV001968988 ; RCV002388956
• dbSNP Id: rs763344790
• MyVariant Identifiers: chr22:g.29090075A>C (hg19) ; chr22:g.28694087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694087A>C , CM000684.2:g.28694087A>C	GRCh38
NC_000022.10:g.29090075A>C , CM000684.1:g.29090075A>C	GRCh37
NC_000022.9:g.27420075A>C	NCBI36
NG_008150.1:g.52748T>G
NG_008150.2:g.52780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*141T>G	ENSP00000518557.1:n.*141T>G
ENST00000402731.6:c.1205T>G	ENSP00000384835.2:p.Val402Gly
ENST00000404276.6:c.1406T>G MANE Select	ENSP00000385747.1:p.Val469Gly
ENST00000425190.7:c.743T>G	ENSP00000390244.2:p.Val248Gly
ENST00000464581.6:c.746T>G	ENSP00000483777.2:p.Val249Gly
ENST00000648295.1:n.958T>G
ENST00000649563.1:c.743T>G	ENSP00000496928.1:p.Val248Gly
ENST00000650281.1:c.1406T>G	ENSP00000497000.1:p.Val469Gly
ENST00000328354.10:c.1406T>G	ENSP00000329178.6:p.Val469Gly
ENST00000348295.7:c.1319T>G	ENSP00000329012.5:p.Val440Gly
ENST00000382580.6:c.1535T>G	ENSP00000372023.2:p.Val512Gly
ENST00000402731.5:c.1319T>G	ENSP00000384835.1:p.Val440Gly
ENST00000403642.5:c.1133T>G	ENSP00000384919.1:p.Val378Gly
ENST00000404276.5:c.1406T>G	ENSP00000385747.1:p.Val469Gly
ENST00000405598.5:c.1406T>G	ENSP00000386087.1:p.Val469Gly
ENST00000416671.5:c.*896T>G	ENSP00000402225.1:n.*896T>G
ENST00000417588.5:c.1315T>G	ENSP00000412901.1:n.1315T>G
ENST00000433728.5:c.1344T>G	ENSP00000404400.1:n.1344T>G
ENST00000434810.5:c.604T>G
ENST00000448511.5:c.1296T>G	ENSP00000404567.1:n.1296T>G
ENST00000456369.5:c.264-4872T>G
NM_001005735.1:c.1535T>G	NP_001005735.1:p.Val512Gly
NM_001257387.1:c.743T>G	NP_001244316.1:p.Val248Gly
NM_007194.3:c.1406T>G	NP_009125.1:p.Val469Gly
NM_145862.2:c.1319T>G	NP_665861.1:p.Val440Gly
XM_006724114.2:c.926T>G	XP_006724177.1:p.Val309Gly
XM_006724116.2:c.863T>G	XP_006724179.2:p.Val288Gly
XM_011529839.1:c.1565T>G	XP_011528141.1:p.Val522Gly
XM_011529840.1:c.1478T>G	XP_011528142.1:p.Val493Gly
XM_011529841.1:c.1334T>G	XP_011528143.1:p.Val445Gly
XM_011529842.1:c.1235T>G	XP_011528144.1:p.Val412Gly
XM_011529843.1:c.1205T>G	XP_011528145.1:p.Val402Gly
XM_011529845.1:c.743T>G	XP_011528147.1:p.Val248Gly
XR_937805.1:n.1565T>G
NM_001349956.1:c.1205T>G	NP_001336885.1:p.Val402Gly
NM_007194.4:c.1406T>G MANE Select	NP_009125.1:p.Val469Gly
XM_006724114.3:c.959T>G	XP_006724177.2:p.Val320Gly
XM_011529839.2:c.1565T>G	XP_011528141.1:p.Val522Gly
XM_011529840.3:c.1478T>G	XP_011528142.1:p.Val493Gly
XM_011529842.2:c.1235T>G	XP_011528144.1:p.Val412Gly
XM_011529845.2:c.743T>G	XP_011528147.1:p.Val248Gly
XM_017028560.1:c.1529T>G	XP_016884049.1:p.Val510Gly
XM_017028561.2:c.743T>G	XP_016884050.1:p.Val248Gly
XM_024452148.1:c.1436T>G	XP_024307916.1:p.Val479Gly
XM_024452149.1:c.1349T>G	XP_024307917.1:p.Val450Gly
XR_937805.2:n.1576T>G
NM_001005735.2:c.1535T>G	NP_001005735.1:p.Val512Gly
NM_001257387.2:c.743T>G	NP_001244316.1:p.Val248Gly
NM_001349956.2:c.1205T>G	NP_001336885.1:p.Val402Gly