Canonical Allele Identifier: CA411092296
Community Standard Title: NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689137G>A , CM000684.2:g.28689137G>A GRCh38
NC_000022.10:g.29085125G>A , CM000684.1:g.29085125G>A GRCh37
NC_000022.9:g.27415125G>A NCBI36
NG_008150.1:g.57698C>T
NG_008150.2:g.57730C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1540C>T MANE Select NP_009125.1:p.Gln514Ter
ENST00000404276.6:c.1540C>T MANE Select ENSP00000385747.1:p.Gln514Ter
NM_001005735.1:c.1669C>T NP_001005735.1:p.Gln557Ter
NM_001005735.2:c.1669C>T NP_001005735.1:p.Gln557Ter
NM_001257387.1:c.877C>T NP_001244316.1:p.Gln293Ter
NM_001257387.2:c.877C>T NP_001244316.1:p.Gln293Ter
NM_001349956.1:c.1339C>T NP_001336885.1:p.Gln447Ter
NM_001349956.2:c.1339C>T NP_001336885.1:p.Gln447Ter
NM_007194.3:c.1540C>T NP_009125.1:p.Gln514Ter
NM_145862.2:c.1453C>T NP_665861.1:p.Gln485Ter
ENST00000328354.10:c.1540C>T ENSP00000329178.6:p.Gln514Ter
ENST00000348295.7:c.1453C>T ENSP00000329012.5:p.Gln485Ter
ENST00000382580.6:c.1669C>T ENSP00000372023.2:p.Gln557Ter
ENST00000402731.5:c.1453C>T ENSP00000384835.1:p.Gln485Ter
ENST00000402731.6:c.1339C>T ENSP00000384835.2:p.Gln447Ter
ENST00000403642.5:c.1267C>T ENSP00000384919.1:p.Gln423Ter
ENST00000404276.5:c.1540C>T ENSP00000385747.1:p.Gln514Ter
ENST00000405598.5:c.1540C>T ENSP00000386087.1:p.Gln514Ter
ENST00000416671.5:c.*1030C>T ENSP00000402225.1:n.*1030C>T
ENST00000417588.5:c.1449C>T ENSP00000412901.1:n.1449C>T
ENST00000425190.7:c.877C>T ENSP00000390244.2:p.Gln293Ter
ENST00000433728.5:c.1478C>T ENSP00000404400.1:n.1478C>T
ENST00000434810.5:c.738C>T
ENST00000448511.5:c.1430C>T ENSP00000404567.1:n.1430C>T
ENST00000456369.5:c.342C>T
ENST00000464581.6:c.880C>T ENSP00000483777.2:p.Gln294Ter
ENST00000472807.1:n.274C>T
ENST00000648295.1:n.1092C>T
ENST00000649563.1:c.877C>T ENSP00000496928.1:p.Gln293Ter
ENST00000650281.1:c.1540C>T ENSP00000497000.1:p.Gln514Ter
ENST00000711048.1:c.*275C>T ENSP00000518557.1:n.*275C>T
XM_006724114.2:c.1060C>T XP_006724177.1:p.Gln354Ter
XM_006724114.3:c.1093C>T XP_006724177.2:p.Gln365Ter
XM_006724116.2:c.997C>T XP_006724179.2:p.Gln333Ter
XM_011529839.1:c.1699C>T XP_011528141.1:p.Gln567Ter
XM_011529839.2:c.1699C>T XP_011528141.1:p.Gln567Ter
XM_011529840.1:c.1612C>T XP_011528142.1:p.Gln538Ter
XM_011529840.3:c.1612C>T XP_011528142.1:p.Gln538Ter
XM_011529841.1:c.1468C>T XP_011528143.1:p.Gln490Ter
XM_011529842.1:c.1369C>T XP_011528144.1:p.Gln457Ter
XM_011529842.2:c.1369C>T XP_011528144.1:p.Gln457Ter
XM_011529843.1:c.1339C>T XP_011528145.1:p.Gln447Ter
XM_011529845.1:c.877C>T XP_011528147.1:p.Gln293Ter
XM_011529845.2:c.877C>T XP_011528147.1:p.Gln293Ter
XM_017028560.1:c.1663C>T XP_016884049.1:p.Gln555Ter
XM_017028561.2:c.877C>T XP_016884050.1:p.Gln293Ter
XM_024452148.1:c.1570C>T XP_024307916.1:p.Gln524Ter
XM_024452149.1:c.1483C>T XP_024307917.1:p.Gln495Ter
XR_937805.1:n.1699C>T
XR_937805.2:n.1710C>T