Canonical Allele Identifier: CA411096601
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695731A>C , CM000684.2:g.28695731A>C GRCh38
NC_000022.10:g.29091719A>C , CM000684.1:g.29091719A>C GRCh37
NC_000022.9:g.27421719A>C NCBI36
NG_008150.1:g.51104T>G
NG_008150.2:g.51136T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-489T>G ENSP00000518557.1:n.1009-489T>G
ENST00000402731.6:c.1037T>G ENSP00000384835.2:p.Leu346Ter
ENST00000404276.6:c.1238T>G MANE Select ENSP00000385747.1:p.Leu413Ter
ENST00000425190.7:c.575T>G ENSP00000390244.2:p.Leu192Ter
ENST00000464581.6:c.578T>G ENSP00000483777.2:p.Leu193Ter
ENST00000648295.1:n.790T>G
ENST00000649563.1:c.575T>G ENSP00000496928.1:p.Leu192Ter
ENST00000650281.1:c.1238T>G ENSP00000497000.1:p.Leu413Ter
ENST00000328354.10:c.1238T>G ENSP00000329178.6:p.Leu413Ter
ENST00000348295.7:c.1151T>G ENSP00000329012.5:p.Leu384Ter
ENST00000382580.6:c.1367T>G ENSP00000372023.2:p.Leu456Ter
ENST00000402731.5:c.1151T>G ENSP00000384835.1:p.Leu384Ter
ENST00000403642.5:c.965T>G ENSP00000384919.1:p.Leu322Ter
ENST00000404276.5:c.1238T>G ENSP00000385747.1:p.Leu413Ter
ENST00000405598.5:c.1238T>G ENSP00000386087.1:p.Leu413Ter
ENST00000416671.5:c.*728T>G ENSP00000402225.1:n.*728T>G
ENST00000417588.5:c.1147T>G ENSP00000412901.1:n.1147T>G
ENST00000433728.5:c.1176T>G ENSP00000404400.1:n.1176T>G
ENST00000434810.5:c.469T>G
ENST00000448511.5:c.1128T>G ENSP00000404567.1:n.1128T>G
ENST00000456369.5:c.263+4107T>G
NM_001005735.1:c.1367T>G NP_001005735.1:p.Leu456Ter
NM_001257387.1:c.575T>G NP_001244316.1:p.Leu192Ter
NM_007194.3:c.1238T>G NP_009125.1:p.Leu413Ter
NM_145862.2:c.1151T>G NP_665861.1:p.Leu384Ter
XM_006724114.2:c.758T>G XP_006724177.1:p.Leu253Ter
XM_006724116.2:c.695T>G XP_006724179.2:p.Leu232Ter
XM_011529839.1:c.1397T>G XP_011528141.1:p.Leu466Ter
XM_011529840.1:c.1310T>G XP_011528142.1:p.Leu437Ter
XM_011529841.1:c.1166T>G XP_011528143.1:p.Leu389Ter
XM_011529842.1:c.1067T>G XP_011528144.1:p.Leu356Ter
XM_011529843.1:c.1037T>G XP_011528145.1:p.Leu346Ter
XM_011529845.1:c.575T>G XP_011528147.1:p.Leu192Ter
XR_937805.1:n.1397T>G
NM_001349956.1:c.1037T>G NP_001336885.1:p.Leu346Ter
NM_007194.4:c.1238T>G MANE Select NP_009125.1:p.Leu413Ter
XM_006724114.3:c.791T>G XP_006724177.2:p.Leu264Ter
XM_011529839.2:c.1397T>G XP_011528141.1:p.Leu466Ter
XM_011529840.3:c.1310T>G XP_011528142.1:p.Leu437Ter
XM_011529842.2:c.1067T>G XP_011528144.1:p.Leu356Ter
XM_011529845.2:c.575T>G XP_011528147.1:p.Leu192Ter
XM_017028560.1:c.1361T>G XP_016884049.1:p.Leu454Ter
XM_017028561.2:c.575T>G XP_016884050.1:p.Leu192Ter
XM_024452148.1:c.1268T>G XP_024307916.1:p.Leu423Ter
XM_024452149.1:c.1181T>G XP_024307917.1:p.Leu394Ter
XR_937805.2:n.1408T>G
NM_001005735.2:c.1367T>G NP_001005735.1:p.Leu456Ter
NM_001257387.2:c.575T>G NP_001244316.1:p.Leu192Ter
NM_001349956.2:c.1037T>G NP_001336885.1:p.Leu346Ter