Canonical Allele Identifier: CA411096736

Gene: CHEK2

Linked Data

• COSMIC: COSM1559598
• MyVariant Identifiers: chr22:g.29091747A>C (hg19) ; chr22:g.28695759A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695759A>C , CM000684.2:g.28695759A>C	GRCh38
NC_000022.10:g.29091747A>C , CM000684.1:g.29091747A>C	GRCh37
NC_000022.9:g.27421747A>C	NCBI36
NG_008150.1:g.51076T>G
NG_008150.2:g.51108T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517T>G	ENSP00000518557.1:n.1009-517T>G
ENST00000402731.6:c.1009T>G	ENSP00000384835.2:p.Tyr337Asp
ENST00000404276.6:c.1210T>G MANE Select	ENSP00000385747.1:p.Tyr404Asp
ENST00000425190.7:c.547T>G	ENSP00000390244.2:p.Tyr183Asp
ENST00000464581.6:c.550T>G	ENSP00000483777.2:p.Tyr184Asp
ENST00000648295.1:n.762T>G
ENST00000649563.1:c.547T>G	ENSP00000496928.1:p.Tyr183Asp
ENST00000650281.1:c.1210T>G	ENSP00000497000.1:p.Tyr404Asp
ENST00000328354.10:c.1210T>G	ENSP00000329178.6:p.Tyr404Asp
ENST00000348295.7:c.1123T>G	ENSP00000329012.5:p.Tyr375Asp
ENST00000382580.6:c.1339T>G	ENSP00000372023.2:p.Tyr447Asp
ENST00000402731.5:c.1123T>G	ENSP00000384835.1:p.Tyr375Asp
ENST00000403642.5:c.937T>G	ENSP00000384919.1:p.Tyr313Asp
ENST00000404276.5:c.1210T>G	ENSP00000385747.1:p.Tyr404Asp
ENST00000405598.5:c.1210T>G	ENSP00000386087.1:p.Tyr404Asp
ENST00000416671.5:c.*700T>G	ENSP00000402225.1:n.*700T>G
ENST00000417588.5:c.1119T>G	ENSP00000412901.1:n.1119T>G
ENST00000433728.5:c.1148T>G	ENSP00000404400.1:n.1148T>G
ENST00000434810.5:c.441T>G
ENST00000448511.5:c.1100T>G	ENSP00000404567.1:n.1100T>G
ENST00000456369.5:c.263+4079T>G
NM_001005735.1:c.1339T>G	NP_001005735.1:p.Tyr447Asp
NM_001257387.1:c.547T>G	NP_001244316.1:p.Tyr183Asp
NM_007194.3:c.1210T>G	NP_009125.1:p.Tyr404Asp
NM_145862.2:c.1123T>G	NP_665861.1:p.Tyr375Asp
XM_006724114.2:c.730T>G	XP_006724177.1:p.Tyr244Asp
XM_006724116.2:c.667T>G	XP_006724179.2:p.Tyr223Asp
XM_011529839.1:c.1369T>G	XP_011528141.1:p.Tyr457Asp
XM_011529840.1:c.1282T>G	XP_011528142.1:p.Tyr428Asp
XM_011529841.1:c.1138T>G	XP_011528143.1:p.Tyr380Asp
XM_011529842.1:c.1039T>G	XP_011528144.1:p.Tyr347Asp
XM_011529843.1:c.1009T>G	XP_011528145.1:p.Tyr337Asp
XM_011529845.1:c.547T>G	XP_011528147.1:p.Tyr183Asp
XR_937805.1:n.1369T>G
NM_001349956.1:c.1009T>G	NP_001336885.1:p.Tyr337Asp
NM_007194.4:c.1210T>G MANE Select	NP_009125.1:p.Tyr404Asp
XM_006724114.3:c.763T>G	XP_006724177.2:p.Tyr255Asp
XM_011529839.2:c.1369T>G	XP_011528141.1:p.Tyr457Asp
XM_011529840.3:c.1282T>G	XP_011528142.1:p.Tyr428Asp
XM_011529842.2:c.1039T>G	XP_011528144.1:p.Tyr347Asp
XM_011529845.2:c.547T>G	XP_011528147.1:p.Tyr183Asp
XM_017028560.1:c.1333T>G	XP_016884049.1:p.Tyr445Asp
XM_017028561.2:c.547T>G	XP_016884050.1:p.Tyr183Asp
XM_024452148.1:c.1240T>G	XP_024307916.1:p.Tyr414Asp
XM_024452149.1:c.1153T>G	XP_024307917.1:p.Tyr385Asp
XR_937805.2:n.1380T>G
NM_001005735.2:c.1339T>G	NP_001005735.1:p.Tyr447Asp
NM_001257387.2:c.547T>G	NP_001244316.1:p.Tyr183Asp
NM_001349956.2:c.1009T>G	NP_001336885.1:p.Tyr337Asp