Canonical Allele Identifier: CA411099629

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1060536
• ClinVar RCV Id: RCV001369981 ; RCV002384535
• dbSNP Id: rs2145842493
• MyVariant Identifiers: chr22:g.29095857A>G (hg19) ; chr22:g.28699869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699869A>G , CM000684.2:g.28699869A>G	GRCh38
NC_000022.10:g.29095857A>G , CM000684.1:g.29095857A>G	GRCh37
NC_000022.9:g.27425857A>G	NCBI36
NG_008150.1:g.46966T>C
NG_008150.2:g.46998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.886T>C	ENSP00000396903.2:n.886T>C
ENST00000711048.1:c.977T>C	ENSP00000518557.1:p.Leu326Pro
ENST00000402731.6:c.776T>C	ENSP00000384835.2:p.Leu259Pro
ENST00000404276.6:c.977T>C MANE Select	ENSP00000385747.1:p.Leu326Pro
ENST00000425190.7:c.314T>C	ENSP00000390244.2:p.Leu105Pro
ENST00000464581.6:c.317T>C	ENSP00000483777.2:p.Leu106Pro
ENST00000648295.1:n.529T>C
ENST00000649563.1:c.314T>C	ENSP00000496928.1:p.Leu105Pro
ENST00000650281.1:c.977T>C	ENSP00000497000.1:p.Leu326Pro
ENST00000328354.10:c.977T>C	ENSP00000329178.6:p.Leu326Pro
ENST00000348295.7:c.977T>C	ENSP00000329012.5:p.Leu326Pro
ENST00000382580.6:c.1106T>C	ENSP00000372023.2:p.Leu369Pro
ENST00000402731.5:c.977T>C	ENSP00000384835.1:p.Leu326Pro
ENST00000403642.5:c.704T>C	ENSP00000384919.1:p.Leu235Pro
ENST00000404276.5:c.977T>C	ENSP00000385747.1:p.Leu326Pro
ENST00000405598.5:c.977T>C	ENSP00000386087.1:p.Leu326Pro
ENST00000416671.5:c.*467T>C	ENSP00000402225.1:n.*467T>C
ENST00000417588.5:c.886T>C	ENSP00000412901.1:n.886T>C
ENST00000425190.6:c.314T>C	ENSP00000390244.1:p.Leu105Pro
ENST00000433028.6:c.*702T>C	ENSP00000403659.1:n.*702T>C
ENST00000433728.5:c.915T>C	ENSP00000404400.1:n.915T>C
ENST00000434810.5:c.208T>C
ENST00000439346.5:c.448T>C	ENSP00000396903.1:n.448T>C
ENST00000447421.5:c.776T>C	ENSP00000397478.2:p.Leu259Pro
ENST00000448511.5:c.867T>C	ENSP00000404567.1:n.867T>C
ENST00000456369.5:c.232T>C
ENST00000464581.5:c.317T>C	ENSP00000483777.1:p.Leu106Pro
ENST00000491919.5:n.534T>C
NM_001005735.1:c.1106T>C	NP_001005735.1:p.Leu369Pro
NM_001257387.1:c.314T>C	NP_001244316.1:p.Leu105Pro
NM_007194.3:c.977T>C	NP_009125.1:p.Leu326Pro
NM_145862.2:c.977T>C	NP_665861.1:p.Leu326Pro
XM_006724114.2:c.497T>C	XP_006724177.1:p.Leu166Pro
XM_006724116.2:c.434T>C	XP_006724179.2:p.Leu145Pro
XM_011529839.1:c.1136T>C	XP_011528141.1:p.Leu379Pro
XM_011529840.1:c.1136T>C	XP_011528142.1:p.Leu379Pro
XM_011529841.1:c.905T>C	XP_011528143.1:p.Leu302Pro
XM_011529842.1:c.806T>C	XP_011528144.1:p.Leu269Pro
XM_011529843.1:c.776T>C	XP_011528145.1:p.Leu259Pro
XM_011529844.1:c.1136T>C	XP_011528146.1:p.Leu379Pro
XM_011529845.1:c.314T>C	XP_011528147.1:p.Leu105Pro
XR_937805.1:n.1136T>C
XR_937806.1:n.1131T>C
XR_937807.1:n.1131T>C
NM_001349956.1:c.776T>C	NP_001336885.1:p.Leu259Pro
NM_007194.4:c.977T>C MANE Select	NP_009125.1:p.Leu326Pro
XM_006724114.3:c.530T>C	XP_006724177.2:p.Leu177Pro
XM_011529839.2:c.1136T>C	XP_011528141.1:p.Leu379Pro
XM_011529840.3:c.1136T>C	XP_011528142.1:p.Leu379Pro
XM_011529842.2:c.806T>C	XP_011528144.1:p.Leu269Pro
XM_011529844.2:c.1136T>C	XP_011528146.1:p.Leu379Pro
XM_011529845.2:c.314T>C	XP_011528147.1:p.Leu105Pro
XM_017028560.1:c.1100T>C	XP_016884049.1:p.Leu367Pro
XM_017028561.2:c.314T>C	XP_016884050.1:p.Leu105Pro
XM_024452148.1:c.1007T>C	XP_024307916.1:p.Leu336Pro
XM_024452149.1:c.1007T>C	XP_024307917.1:p.Leu336Pro
XR_937805.2:n.1147T>C
XR_937806.2:n.1147T>C
XR_937807.2:n.1147T>C
NM_001005735.2:c.1106T>C	NP_001005735.1:p.Leu369Pro
NM_001257387.2:c.314T>C	NP_001244316.1:p.Leu105Pro
NM_001349956.2:c.776T>C	NP_001336885.1:p.Leu259Pro