Canonical Allele Identifier: CA10167712

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695773A>T , CM000684.2:g.28695773A>T	GRCh38
NC_000022.10:g.29091761A>T , CM000684.1:g.29091761A>T	GRCh37
NC_000022.9:g.27421761A>T	NCBI36
NG_008150.1:g.51062T>A
NG_008150.2:g.51094T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1196T>A MANE Select	NP_009125.1:p.Val399Asp
ENST00000404276.6:c.1196T>A MANE Select	ENSP00000385747.1:p.Val399Asp
NM_001005735.1:c.1325T>A	NP_001005735.1:p.Val442Asp
NM_001005735.2:c.1325T>A	NP_001005735.1:p.Val442Asp
NM_001257387.1:c.533T>A	NP_001244316.1:p.Val178Asp
NM_001257387.2:c.533T>A	NP_001244316.1:p.Val178Asp
NM_001349956.1:c.995T>A	NP_001336885.1:p.Val332Asp
NM_001349956.2:c.995T>A	NP_001336885.1:p.Val332Asp
NM_007194.3:c.1196T>A	NP_009125.1:p.Val399Asp
NM_145862.2:c.1109T>A	NP_665861.1:p.Val370Asp
ENST00000328354.10:c.1196T>A	ENSP00000329178.6:p.Val399Asp
ENST00000348295.7:c.1109T>A	ENSP00000329012.5:p.Val370Asp
ENST00000382580.6:c.1325T>A	ENSP00000372023.2:p.Val442Asp
ENST00000402731.5:c.1109T>A	ENSP00000384835.1:p.Val370Asp
ENST00000402731.6:c.995T>A	ENSP00000384835.2:p.Val332Asp
ENST00000403642.5:c.923T>A	ENSP00000384919.1:p.Val308Asp
ENST00000404276.5:c.1196T>A	ENSP00000385747.1:p.Val399Asp
ENST00000405598.5:c.1196T>A	ENSP00000386087.1:p.Val399Asp
ENST00000416671.5:c.*686T>A	ENSP00000402225.1:n.*686T>A
ENST00000417588.5:c.1105T>A	ENSP00000412901.1:n.1105T>A
ENST00000425190.7:c.533T>A	ENSP00000390244.2:p.Val178Asp
ENST00000433728.5:c.1134T>A	ENSP00000404400.1:n.1134T>A
ENST00000434810.5:c.427T>A
ENST00000448511.5:c.1086T>A	ENSP00000404567.1:n.1086T>A
ENST00000456369.5:c.263+4065T>A
ENST00000464581.6:c.536T>A	ENSP00000483777.2:p.Val179Asp
ENST00000648295.1:n.748T>A
ENST00000649563.1:c.533T>A	ENSP00000496928.1:p.Val178Asp
ENST00000650281.1:c.1196T>A	ENSP00000497000.1:p.Val399Asp
ENST00000711048.1:c.1009-531T>A	ENSP00000518557.1:n.1009-531T>A
XM_006724114.2:c.716T>A	XP_006724177.1:p.Val239Asp
XM_006724114.3:c.749T>A	XP_006724177.2:p.Val250Asp
XM_006724116.2:c.653T>A	XP_006724179.2:p.Val218Asp
XM_011529839.1:c.1355T>A	XP_011528141.1:p.Val452Asp
XM_011529839.2:c.1355T>A	XP_011528141.1:p.Val452Asp
XM_011529840.1:c.1268T>A	XP_011528142.1:p.Val423Asp
XM_011529840.3:c.1268T>A	XP_011528142.1:p.Val423Asp
XM_011529841.1:c.1124T>A	XP_011528143.1:p.Val375Asp
XM_011529842.1:c.1025T>A	XP_011528144.1:p.Val342Asp
XM_011529842.2:c.1025T>A	XP_011528144.1:p.Val342Asp
XM_011529843.1:c.995T>A	XP_011528145.1:p.Val332Asp
XM_011529845.1:c.533T>A	XP_011528147.1:p.Val178Asp
XM_011529845.2:c.533T>A	XP_011528147.1:p.Val178Asp
XM_017028560.1:c.1319T>A	XP_016884049.1:p.Val440Asp
XM_017028561.2:c.533T>A	XP_016884050.1:p.Val178Asp
XM_024452148.1:c.1226T>A	XP_024307916.1:p.Val409Asp
XM_024452149.1:c.1139T>A	XP_024307917.1:p.Val380Asp
XR_937805.1:n.1355T>A
XR_937805.2:n.1366T>A