Canonical Allele Identifier: CA411096673

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1330102
• ClinVar RCV Id: RCV001801119
• dbSNP Id: rs766191039
• MyVariant Identifiers: chr22:g.29091732C>A (hg19) ; chr22:g.28695744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695744C>A , CM000684.2:g.28695744C>A	GRCh38
NC_000022.10:g.29091732C>A , CM000684.1:g.29091732C>A	GRCh37
NC_000022.9:g.27421732C>A	NCBI36
NG_008150.1:g.51091G>T
NG_008150.2:g.51123G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-502G>T	ENSP00000518557.1:n.1009-502G>T
ENST00000402731.6:c.1024G>T	ENSP00000384835.2:p.Asp342Tyr
ENST00000404276.6:c.1225G>T MANE Select	ENSP00000385747.1:p.Asp409Tyr
ENST00000425190.7:c.562G>T	ENSP00000390244.2:p.Asp188Tyr
ENST00000464581.6:c.565G>T	ENSP00000483777.2:p.Asp189Tyr
ENST00000648295.1:n.777G>T
ENST00000649563.1:c.562G>T	ENSP00000496928.1:p.Asp188Tyr
ENST00000650281.1:c.1225G>T	ENSP00000497000.1:p.Asp409Tyr
ENST00000328354.10:c.1225G>T	ENSP00000329178.6:p.Asp409Tyr
ENST00000348295.7:c.1138G>T	ENSP00000329012.5:p.Asp380Tyr
ENST00000382580.6:c.1354G>T	ENSP00000372023.2:p.Asp452Tyr
ENST00000402731.5:c.1138G>T	ENSP00000384835.1:p.Asp380Tyr
ENST00000403642.5:c.952G>T	ENSP00000384919.1:p.Asp318Tyr
ENST00000404276.5:c.1225G>T	ENSP00000385747.1:p.Asp409Tyr
ENST00000405598.5:c.1225G>T	ENSP00000386087.1:p.Asp409Tyr
ENST00000416671.5:c.*715G>T	ENSP00000402225.1:n.*715G>T
ENST00000417588.5:c.1134G>T	ENSP00000412901.1:n.1134G>T
ENST00000433728.5:c.1163G>T	ENSP00000404400.1:n.1163G>T
ENST00000434810.5:c.456G>T
ENST00000448511.5:c.1115G>T	ENSP00000404567.1:n.1115G>T
ENST00000456369.5:c.263+4094G>T
NM_001005735.1:c.1354G>T	NP_001005735.1:p.Asp452Tyr
NM_001257387.1:c.562G>T	NP_001244316.1:p.Asp188Tyr
NM_007194.3:c.1225G>T	NP_009125.1:p.Asp409Tyr
NM_145862.2:c.1138G>T	NP_665861.1:p.Asp380Tyr
XM_006724114.2:c.745G>T	XP_006724177.1:p.Asp249Tyr
XM_006724116.2:c.682G>T	XP_006724179.2:p.Asp228Tyr
XM_011529839.1:c.1384G>T	XP_011528141.1:p.Asp462Tyr
XM_011529840.1:c.1297G>T	XP_011528142.1:p.Asp433Tyr
XM_011529841.1:c.1153G>T	XP_011528143.1:p.Asp385Tyr
XM_011529842.1:c.1054G>T	XP_011528144.1:p.Asp352Tyr
XM_011529843.1:c.1024G>T	XP_011528145.1:p.Asp342Tyr
XM_011529845.1:c.562G>T	XP_011528147.1:p.Asp188Tyr
XR_937805.1:n.1384G>T
NM_001349956.1:c.1024G>T	NP_001336885.1:p.Asp342Tyr
NM_007194.4:c.1225G>T MANE Select	NP_009125.1:p.Asp409Tyr
XM_006724114.3:c.778G>T	XP_006724177.2:p.Asp260Tyr
XM_011529839.2:c.1384G>T	XP_011528141.1:p.Asp462Tyr
XM_011529840.3:c.1297G>T	XP_011528142.1:p.Asp433Tyr
XM_011529842.2:c.1054G>T	XP_011528144.1:p.Asp352Tyr
XM_011529845.2:c.562G>T	XP_011528147.1:p.Asp188Tyr
XM_017028560.1:c.1348G>T	XP_016884049.1:p.Asp450Tyr
XM_017028561.2:c.562G>T	XP_016884050.1:p.Asp188Tyr
XM_024452148.1:c.1255G>T	XP_024307916.1:p.Asp419Tyr
XM_024452149.1:c.1168G>T	XP_024307917.1:p.Asp390Tyr
XR_937805.2:n.1395G>T
NM_001005735.2:c.1354G>T	NP_001005735.1:p.Asp452Tyr
NM_001257387.2:c.562G>T	NP_001244316.1:p.Asp188Tyr
NM_001349956.2:c.1024G>T	NP_001336885.1:p.Asp342Tyr