Canonical Allele Identifier: CA411096574

Gene: CHEK2

Linked Data

• dbSNP Id: rs748555394
• MyVariant Identifiers: chr22:g.29091713A>C (hg19) ; chr22:g.28695725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695725A>C , CM000684.2:g.28695725A>C	GRCh38
NC_000022.10:g.29091713A>C , CM000684.1:g.29091713A>C	GRCh37
NC_000022.9:g.27421713A>C	NCBI36
NG_008150.1:g.51110T>G
NG_008150.2:g.51142T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-483T>G	ENSP00000518557.1:n.1009-483T>G
ENST00000402731.6:c.1043T>G	ENSP00000384835.2:p.Val348Gly
ENST00000404276.6:c.1244T>G MANE Select	ENSP00000385747.1:p.Val415Gly
ENST00000425190.7:c.581T>G	ENSP00000390244.2:p.Val194Gly
ENST00000464581.6:c.584T>G	ENSP00000483777.2:p.Val195Gly
ENST00000648295.1:n.796T>G
ENST00000649563.1:c.581T>G	ENSP00000496928.1:p.Val194Gly
ENST00000650281.1:c.1244T>G	ENSP00000497000.1:p.Val415Gly
ENST00000328354.10:c.1244T>G	ENSP00000329178.6:p.Val415Gly
ENST00000348295.7:c.1157T>G	ENSP00000329012.5:p.Val386Gly
ENST00000382580.6:c.1373T>G	ENSP00000372023.2:p.Val458Gly
ENST00000402731.5:c.1157T>G	ENSP00000384835.1:p.Val386Gly
ENST00000403642.5:c.971T>G	ENSP00000384919.1:p.Val324Gly
ENST00000404276.5:c.1244T>G	ENSP00000385747.1:p.Val415Gly
ENST00000405598.5:c.1244T>G	ENSP00000386087.1:p.Val415Gly
ENST00000416671.5:c.*734T>G	ENSP00000402225.1:n.*734T>G
ENST00000417588.5:c.1153T>G	ENSP00000412901.1:n.1153T>G
ENST00000433728.5:c.1182T>G	ENSP00000404400.1:n.1182T>G
ENST00000434810.5:c.475T>G
ENST00000448511.5:c.1134T>G	ENSP00000404567.1:n.1134T>G
ENST00000456369.5:c.263+4113T>G
NM_001005735.1:c.1373T>G	NP_001005735.1:p.Val458Gly
NM_001257387.1:c.581T>G	NP_001244316.1:p.Val194Gly
NM_007194.3:c.1244T>G	NP_009125.1:p.Val415Gly
NM_145862.2:c.1157T>G	NP_665861.1:p.Val386Gly
XM_006724114.2:c.764T>G	XP_006724177.1:p.Val255Gly
XM_006724116.2:c.701T>G	XP_006724179.2:p.Val234Gly
XM_011529839.1:c.1403T>G	XP_011528141.1:p.Val468Gly
XM_011529840.1:c.1316T>G	XP_011528142.1:p.Val439Gly
XM_011529841.1:c.1172T>G	XP_011528143.1:p.Val391Gly
XM_011529842.1:c.1073T>G	XP_011528144.1:p.Val358Gly
XM_011529843.1:c.1043T>G	XP_011528145.1:p.Val348Gly
XM_011529845.1:c.581T>G	XP_011528147.1:p.Val194Gly
XR_937805.1:n.1403T>G
NM_001349956.1:c.1043T>G	NP_001336885.1:p.Val348Gly
NM_007194.4:c.1244T>G MANE Select	NP_009125.1:p.Val415Gly
XM_006724114.3:c.797T>G	XP_006724177.2:p.Val266Gly
XM_011529839.2:c.1403T>G	XP_011528141.1:p.Val468Gly
XM_011529840.3:c.1316T>G	XP_011528142.1:p.Val439Gly
XM_011529842.2:c.1073T>G	XP_011528144.1:p.Val358Gly
XM_011529845.2:c.581T>G	XP_011528147.1:p.Val194Gly
XM_017028560.1:c.1367T>G	XP_016884049.1:p.Val456Gly
XM_017028561.2:c.581T>G	XP_016884050.1:p.Val194Gly
XM_024452148.1:c.1274T>G	XP_024307916.1:p.Val425Gly
XM_024452149.1:c.1187T>G	XP_024307917.1:p.Val396Gly
XR_937805.2:n.1414T>G
NM_001005735.2:c.1373T>G	NP_001005735.1:p.Val458Gly
NM_001257387.2:c.581T>G	NP_001244316.1:p.Val194Gly
NM_001349956.2:c.1043T>G	NP_001336885.1:p.Val348Gly