Canonical Allele Identifier: CA411096881

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695814A>T , CM000684.2:g.28695814A>T	GRCh38
NC_000022.10:g.29091802A>T , CM000684.1:g.29091802A>T	GRCh37
NC_000022.9:g.27421802A>T	NCBI36
NG_008150.1:g.51021T>A
NG_008150.2:g.51053T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1155T>A MANE Select	NP_009125.1:p.Cys385Ter
ENST00000404276.6:c.1155T>A MANE Select	ENSP00000385747.1:p.Cys385Ter
NM_001005735.1:c.1284T>A	NP_001005735.1:p.Cys428Ter
NM_001005735.2:c.1284T>A	NP_001005735.1:p.Cys428Ter
NM_001257387.1:c.492T>A	NP_001244316.1:p.Cys164Ter
NM_001257387.2:c.492T>A	NP_001244316.1:p.Cys164Ter
NM_001349956.1:c.954T>A	NP_001336885.1:p.Cys318Ter
NM_001349956.2:c.954T>A	NP_001336885.1:p.Cys318Ter
NM_007194.3:c.1155T>A	NP_009125.1:p.Cys385Ter
NM_145862.2:c.1068T>A	NP_665861.1:p.Cys356Ter
ENST00000328354.10:c.1155T>A	ENSP00000329178.6:p.Cys385Ter
ENST00000348295.7:c.1068T>A	ENSP00000329012.5:p.Cys356Ter
ENST00000382580.6:c.1284T>A	ENSP00000372023.2:p.Cys428Ter
ENST00000402731.5:c.1068T>A	ENSP00000384835.1:p.Cys356Ter
ENST00000402731.6:c.954T>A	ENSP00000384835.2:p.Cys318Ter
ENST00000403642.5:c.882T>A	ENSP00000384919.1:p.Cys294Ter
ENST00000404276.5:c.1155T>A	ENSP00000385747.1:p.Cys385Ter
ENST00000405598.5:c.1155T>A	ENSP00000386087.1:p.Cys385Ter
ENST00000416671.5:c.*645T>A	ENSP00000402225.1:n.*645T>A
ENST00000417588.5:c.1064T>A	ENSP00000412901.1:n.1064T>A
ENST00000425190.7:c.492T>A	ENSP00000390244.2:p.Cys164Ter
ENST00000433728.5:c.1093T>A	ENSP00000404400.1:n.1093T>A
ENST00000434810.5:c.386T>A
ENST00000448511.5:c.1045T>A	ENSP00000404567.1:n.1045T>A
ENST00000456369.5:c.263+4024T>A
ENST00000464581.6:c.495T>A	ENSP00000483777.2:p.Cys165Ter
ENST00000648295.1:n.707T>A
ENST00000649563.1:c.492T>A	ENSP00000496928.1:p.Cys164Ter
ENST00000650281.1:c.1155T>A	ENSP00000497000.1:p.Cys385Ter
ENST00000711048.1:c.1009-572T>A	ENSP00000518557.1:n.1009-572T>A
XM_006724114.2:c.675T>A	XP_006724177.1:p.Cys225Ter
XM_006724114.3:c.708T>A	XP_006724177.2:p.Cys236Ter
XM_006724116.2:c.612T>A	XP_006724179.2:p.Cys204Ter
XM_011529839.1:c.1314T>A	XP_011528141.1:p.Cys438Ter
XM_011529839.2:c.1314T>A	XP_011528141.1:p.Cys438Ter
XM_011529840.1:c.1227T>A	XP_011528142.1:p.Cys409Ter
XM_011529840.3:c.1227T>A	XP_011528142.1:p.Cys409Ter
XM_011529841.1:c.1083T>A	XP_011528143.1:p.Cys361Ter
XM_011529842.1:c.984T>A	XP_011528144.1:p.Cys328Ter
XM_011529842.2:c.984T>A	XP_011528144.1:p.Cys328Ter
XM_011529843.1:c.954T>A	XP_011528145.1:p.Cys318Ter
XM_011529845.1:c.492T>A	XP_011528147.1:p.Cys164Ter
XM_011529845.2:c.492T>A	XP_011528147.1:p.Cys164Ter
XM_017028560.1:c.1278T>A	XP_016884049.1:p.Cys426Ter
XM_017028561.2:c.492T>A	XP_016884050.1:p.Cys164Ter
XM_024452148.1:c.1185T>A	XP_024307916.1:p.Cys395Ter
XM_024452149.1:c.1098T>A	XP_024307917.1:p.Cys366Ter
XR_937805.1:n.1314T>A
XR_937805.2:n.1325T>A
XR_937806.1:n.1222T>A
XR_937806.2:n.1238T>A