Canonical Allele Identifier: CA411096584

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 818682
• ClinVar RCV Id: RCV001010510 ; RCV001216088
• dbSNP Id: rs1601721900
• gnomAD v4: 22-28695726-C-T
• MyVariant Identifiers: chr22:g.29091714C>T (hg19) ; chr22:g.28695726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695726C>T , CM000684.2:g.28695726C>T	GRCh38
NC_000022.10:g.29091714C>T , CM000684.1:g.29091714C>T	GRCh37
NC_000022.9:g.27421714C>T	NCBI36
NG_008150.1:g.51109G>A
NG_008150.2:g.51141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-484G>A	ENSP00000518557.1:n.1009-484G>A
ENST00000402731.6:c.1042G>A	ENSP00000384835.2:p.Val348Ile
ENST00000404276.6:c.1243G>A MANE Select	ENSP00000385747.1:p.Val415Ile
ENST00000425190.7:c.580G>A	ENSP00000390244.2:p.Val194Ile
ENST00000464581.6:c.583G>A	ENSP00000483777.2:p.Val195Ile
ENST00000648295.1:n.795G>A
ENST00000649563.1:c.580G>A	ENSP00000496928.1:p.Val194Ile
ENST00000650281.1:c.1243G>A	ENSP00000497000.1:p.Val415Ile
ENST00000328354.10:c.1243G>A	ENSP00000329178.6:p.Val415Ile
ENST00000348295.7:c.1156G>A	ENSP00000329012.5:p.Val386Ile
ENST00000382580.6:c.1372G>A	ENSP00000372023.2:p.Val458Ile
ENST00000402731.5:c.1156G>A	ENSP00000384835.1:p.Val386Ile
ENST00000403642.5:c.970G>A	ENSP00000384919.1:p.Val324Ile
ENST00000404276.5:c.1243G>A	ENSP00000385747.1:p.Val415Ile
ENST00000405598.5:c.1243G>A	ENSP00000386087.1:p.Val415Ile
ENST00000416671.5:c.*733G>A	ENSP00000402225.1:n.*733G>A
ENST00000417588.5:c.1152G>A	ENSP00000412901.1:n.1152G>A
ENST00000433728.5:c.1181G>A	ENSP00000404400.1:n.1181G>A
ENST00000434810.5:c.474G>A
ENST00000448511.5:c.1133G>A	ENSP00000404567.1:n.1133G>A
ENST00000456369.5:c.263+4112G>A
NM_001005735.1:c.1372G>A	NP_001005735.1:p.Val458Ile
NM_001257387.1:c.580G>A	NP_001244316.1:p.Val194Ile
NM_007194.3:c.1243G>A	NP_009125.1:p.Val415Ile
NM_145862.2:c.1156G>A	NP_665861.1:p.Val386Ile
XM_006724114.2:c.763G>A	XP_006724177.1:p.Val255Ile
XM_006724116.2:c.700G>A	XP_006724179.2:p.Val234Ile
XM_011529839.1:c.1402G>A	XP_011528141.1:p.Val468Ile
XM_011529840.1:c.1315G>A	XP_011528142.1:p.Val439Ile
XM_011529841.1:c.1171G>A	XP_011528143.1:p.Val391Ile
XM_011529842.1:c.1072G>A	XP_011528144.1:p.Val358Ile
XM_011529843.1:c.1042G>A	XP_011528145.1:p.Val348Ile
XM_011529845.1:c.580G>A	XP_011528147.1:p.Val194Ile
XR_937805.1:n.1402G>A
NM_001349956.1:c.1042G>A	NP_001336885.1:p.Val348Ile
NM_007194.4:c.1243G>A MANE Select	NP_009125.1:p.Val415Ile
XM_006724114.3:c.796G>A	XP_006724177.2:p.Val266Ile
XM_011529839.2:c.1402G>A	XP_011528141.1:p.Val468Ile
XM_011529840.3:c.1315G>A	XP_011528142.1:p.Val439Ile
XM_011529842.2:c.1072G>A	XP_011528144.1:p.Val358Ile
XM_011529845.2:c.580G>A	XP_011528147.1:p.Val194Ile
XM_017028560.1:c.1366G>A	XP_016884049.1:p.Val456Ile
XM_017028561.2:c.580G>A	XP_016884050.1:p.Val194Ile
XM_024452148.1:c.1273G>A	XP_024307916.1:p.Val425Ile
XM_024452149.1:c.1186G>A	XP_024307917.1:p.Val396Ile
XR_937805.2:n.1413G>A
NM_001005735.2:c.1372G>A	NP_001005735.1:p.Val458Ile
NM_001257387.2:c.580G>A	NP_001244316.1:p.Val194Ile
NM_001349956.2:c.1042G>A	NP_001336885.1:p.Val348Ile