Canonical Allele Identifier: CA411094087
Community Standard Title: NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694051A>C , CM000684.2:g.28694051A>C GRCh38
NC_000022.10:g.29090039A>C , CM000684.1:g.29090039A>C GRCh37
NC_000022.9:g.27420039A>C NCBI36
NG_008150.1:g.52784T>G
NG_008150.2:g.52816T>G

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1442T>G MANE Select NP_009125.1:p.Leu481Ter
ENST00000404276.6:c.1442T>G MANE Select ENSP00000385747.1:p.Leu481Ter
NM_001005735.1:c.1571T>G NP_001005735.1:p.Leu524Ter
NM_001005735.2:c.1571T>G NP_001005735.1:p.Leu524Ter
NM_001257387.1:c.779T>G NP_001244316.1:p.Leu260Ter
NM_001257387.2:c.779T>G NP_001244316.1:p.Leu260Ter
NM_001349956.1:c.1241T>G NP_001336885.1:p.Leu414Ter
NM_001349956.2:c.1241T>G NP_001336885.1:p.Leu414Ter
NM_007194.3:c.1442T>G NP_009125.1:p.Leu481Ter
NM_145862.2:c.1355T>G NP_665861.1:p.Leu452Ter
ENST00000328354.10:c.1442T>G ENSP00000329178.6:p.Leu481Ter
ENST00000348295.7:c.1355T>G ENSP00000329012.5:p.Leu452Ter
ENST00000382580.6:c.1571T>G ENSP00000372023.2:p.Leu524Ter
ENST00000402731.5:c.1355T>G ENSP00000384835.1:p.Leu452Ter
ENST00000402731.6:c.1241T>G ENSP00000384835.2:p.Leu414Ter
ENST00000403642.5:c.1169T>G ENSP00000384919.1:p.Leu390Ter
ENST00000404276.5:c.1442T>G ENSP00000385747.1:p.Leu481Ter
ENST00000405598.5:c.1442T>G ENSP00000386087.1:p.Leu481Ter
ENST00000416671.5:c.*932T>G ENSP00000402225.1:n.*932T>G
ENST00000417588.5:c.1351T>G ENSP00000412901.1:n.1351T>G
ENST00000425190.7:c.779T>G ENSP00000390244.2:p.Leu260Ter
ENST00000433728.5:c.1380T>G ENSP00000404400.1:n.1380T>G
ENST00000434810.5:c.640T>G
ENST00000448511.5:c.1332T>G ENSP00000404567.1:n.1332T>G
ENST00000456369.5:c.264-4836T>G
ENST00000464581.6:c.782T>G ENSP00000483777.2:p.Leu261Ter
ENST00000648295.1:n.994T>G
ENST00000649563.1:c.779T>G ENSP00000496928.1:p.Leu260Ter
ENST00000650281.1:c.1442T>G ENSP00000497000.1:p.Leu481Ter
ENST00000711048.1:c.*177T>G ENSP00000518557.1:n.*177T>G
XM_006724114.2:c.962T>G XP_006724177.1:p.Leu321Ter
XM_006724114.3:c.995T>G XP_006724177.2:p.Leu332Ter
XM_006724116.2:c.899T>G XP_006724179.2:p.Leu300Ter
XM_011529839.1:c.1601T>G XP_011528141.1:p.Leu534Ter
XM_011529839.2:c.1601T>G XP_011528141.1:p.Leu534Ter
XM_011529840.1:c.1514T>G XP_011528142.1:p.Leu505Ter
XM_011529840.3:c.1514T>G XP_011528142.1:p.Leu505Ter
XM_011529841.1:c.1370T>G XP_011528143.1:p.Leu457Ter
XM_011529842.1:c.1271T>G XP_011528144.1:p.Leu424Ter
XM_011529842.2:c.1271T>G XP_011528144.1:p.Leu424Ter
XM_011529843.1:c.1241T>G XP_011528145.1:p.Leu414Ter
XM_011529845.1:c.779T>G XP_011528147.1:p.Leu260Ter
XM_011529845.2:c.779T>G XP_011528147.1:p.Leu260Ter
XM_017028560.1:c.1565T>G XP_016884049.1:p.Leu522Ter
XM_017028561.2:c.779T>G XP_016884050.1:p.Leu260Ter
XM_024452148.1:c.1472T>G XP_024307916.1:p.Leu491Ter
XM_024452149.1:c.1385T>G XP_024307917.1:p.Leu462Ter
XR_937805.1:n.1601T>G
XR_937805.2:n.1612T>G