Canonical Allele Identifier: CA411096811
Community Standard Title: NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695789C>A , CM000684.2:g.28695789C>A GRCh38
NC_000022.10:g.29091777C>A , CM000684.1:g.29091777C>A GRCh37
NC_000022.9:g.27421777C>A NCBI36
NG_008150.1:g.51046G>T
NG_008150.2:g.51078G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1180G>T MANE Select NP_009125.1:p.Glu394Ter
ENST00000404276.6:c.1180G>T MANE Select ENSP00000385747.1:p.Glu394Ter
NM_001005735.1:c.1309G>T NP_001005735.1:p.Glu437Ter
NM_001005735.2:c.1309G>T NP_001005735.1:p.Glu437Ter
NM_001257387.1:c.517G>T NP_001244316.1:p.Glu173Ter
NM_001257387.2:c.517G>T NP_001244316.1:p.Glu173Ter
NM_001349956.1:c.979G>T NP_001336885.1:p.Glu327Ter
NM_001349956.2:c.979G>T NP_001336885.1:p.Glu327Ter
NM_007194.3:c.1180G>T NP_009125.1:p.Glu394Ter
NM_145862.2:c.1093G>T NP_665861.1:p.Glu365Ter
ENST00000328354.10:c.1180G>T ENSP00000329178.6:p.Glu394Ter
ENST00000348295.7:c.1093G>T ENSP00000329012.5:p.Glu365Ter
ENST00000382580.6:c.1309G>T ENSP00000372023.2:p.Glu437Ter
ENST00000402731.5:c.1093G>T ENSP00000384835.1:p.Glu365Ter
ENST00000402731.6:c.979G>T ENSP00000384835.2:p.Glu327Ter
ENST00000403642.5:c.907G>T ENSP00000384919.1:p.Glu303Ter
ENST00000404276.5:c.1180G>T ENSP00000385747.1:p.Glu394Ter
ENST00000405598.5:c.1180G>T ENSP00000386087.1:p.Glu394Ter
ENST00000416671.5:c.*670G>T ENSP00000402225.1:n.*670G>T
ENST00000417588.5:c.1089G>T ENSP00000412901.1:n.1089G>T
ENST00000425190.7:c.517G>T ENSP00000390244.2:p.Glu173Ter
ENST00000433728.5:c.1118G>T ENSP00000404400.1:n.1118G>T
ENST00000434810.5:c.411G>T
ENST00000448511.5:c.1070G>T ENSP00000404567.1:n.1070G>T
ENST00000456369.5:c.263+4049G>T
ENST00000464581.6:c.520G>T ENSP00000483777.2:p.Glu174Ter
ENST00000648295.1:n.732G>T
ENST00000649563.1:c.517G>T ENSP00000496928.1:p.Glu173Ter
ENST00000650281.1:c.1180G>T ENSP00000497000.1:p.Glu394Ter
ENST00000711048.1:c.1009-547G>T ENSP00000518557.1:n.1009-547G>T
XM_006724114.2:c.700G>T XP_006724177.1:p.Glu234Ter
XM_006724114.3:c.733G>T XP_006724177.2:p.Glu245Ter
XM_006724116.2:c.637G>T XP_006724179.2:p.Glu213Ter
XM_011529839.1:c.1339G>T XP_011528141.1:p.Glu447Ter
XM_011529839.2:c.1339G>T XP_011528141.1:p.Glu447Ter
XM_011529840.1:c.1252G>T XP_011528142.1:p.Glu418Ter
XM_011529840.3:c.1252G>T XP_011528142.1:p.Glu418Ter
XM_011529841.1:c.1108G>T XP_011528143.1:p.Glu370Ter
XM_011529842.1:c.1009G>T XP_011528144.1:p.Glu337Ter
XM_011529842.2:c.1009G>T XP_011528144.1:p.Glu337Ter
XM_011529843.1:c.979G>T XP_011528145.1:p.Glu327Ter
XM_011529845.1:c.517G>T XP_011528147.1:p.Glu173Ter
XM_011529845.2:c.517G>T XP_011528147.1:p.Glu173Ter
XM_017028560.1:c.1303G>T XP_016884049.1:p.Glu435Ter
XM_017028561.2:c.517G>T XP_016884050.1:p.Glu173Ter
XM_024452148.1:c.1210G>T XP_024307916.1:p.Glu404Ter
XM_024452149.1:c.1123G>T XP_024307917.1:p.Glu375Ter
XR_937805.1:n.1339G>T
XR_937805.2:n.1350G>T
XR_937806.1:n.1247G>T
XR_937806.2:n.1263G>T