Canonical Allele Identifier: CA411092740
Community Standard Title: NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689212C>A , CM000684.2:g.28689212C>A GRCh38
NC_000022.10:g.29085200C>A , CM000684.1:g.29085200C>A GRCh37
NC_000022.9:g.27415200C>A NCBI36
NG_008150.1:g.57623G>T
NG_008150.2:g.57655G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1465G>T MANE Select NP_009125.1:p.Glu489Ter
ENST00000404276.6:c.1465G>T MANE Select ENSP00000385747.1:p.Glu489Ter
NM_001005735.1:c.1594G>T NP_001005735.1:p.Glu532Ter
NM_001005735.2:c.1594G>T NP_001005735.1:p.Glu532Ter
NM_001257387.1:c.802G>T NP_001244316.1:p.Glu268Ter
NM_001257387.2:c.802G>T NP_001244316.1:p.Glu268Ter
NM_001349956.1:c.1264G>T NP_001336885.1:p.Glu422Ter
NM_001349956.2:c.1264G>T NP_001336885.1:p.Glu422Ter
NM_007194.3:c.1465G>T NP_009125.1:p.Glu489Ter
NM_145862.2:c.1378G>T NP_665861.1:p.Glu460Ter
ENST00000328354.10:c.1465G>T ENSP00000329178.6:p.Glu489Ter
ENST00000348295.7:c.1378G>T ENSP00000329012.5:p.Glu460Ter
ENST00000382580.6:c.1594G>T ENSP00000372023.2:p.Glu532Ter
ENST00000402731.5:c.1378G>T ENSP00000384835.1:p.Glu460Ter
ENST00000402731.6:c.1264G>T ENSP00000384835.2:p.Glu422Ter
ENST00000403642.5:c.1192G>T ENSP00000384919.1:p.Glu398Ter
ENST00000404276.5:c.1465G>T ENSP00000385747.1:p.Glu489Ter
ENST00000405598.5:c.1465G>T ENSP00000386087.1:p.Glu489Ter
ENST00000416671.5:c.*955G>T ENSP00000402225.1:n.*955G>T
ENST00000417588.5:c.1374G>T ENSP00000412901.1:n.1374G>T
ENST00000425190.7:c.802G>T ENSP00000390244.2:p.Glu268Ter
ENST00000433728.5:c.1403G>T ENSP00000404400.1:n.1403G>T
ENST00000434810.5:c.663G>T
ENST00000448511.5:c.1355G>T ENSP00000404567.1:n.1355G>T
ENST00000456369.5:c.267G>T
ENST00000464581.6:c.805G>T ENSP00000483777.2:p.Glu269Ter
ENST00000472807.1:n.199G>T
ENST00000648295.1:n.1017G>T
ENST00000649563.1:c.802G>T ENSP00000496928.1:p.Glu268Ter
ENST00000650281.1:c.1465G>T ENSP00000497000.1:p.Glu489Ter
ENST00000711048.1:c.*200G>T ENSP00000518557.1:n.*200G>T
XM_006724114.2:c.985G>T XP_006724177.1:p.Glu329Ter
XM_006724114.3:c.1018G>T XP_006724177.2:p.Glu340Ter
XM_006724116.2:c.922G>T XP_006724179.2:p.Glu308Ter
XM_011529839.1:c.1624G>T XP_011528141.1:p.Glu542Ter
XM_011529839.2:c.1624G>T XP_011528141.1:p.Glu542Ter
XM_011529840.1:c.1537G>T XP_011528142.1:p.Glu513Ter
XM_011529840.3:c.1537G>T XP_011528142.1:p.Glu513Ter
XM_011529841.1:c.1393G>T XP_011528143.1:p.Glu465Ter
XM_011529842.1:c.1294G>T XP_011528144.1:p.Glu432Ter
XM_011529842.2:c.1294G>T XP_011528144.1:p.Glu432Ter
XM_011529843.1:c.1264G>T XP_011528145.1:p.Glu422Ter
XM_011529845.1:c.802G>T XP_011528147.1:p.Glu268Ter
XM_011529845.2:c.802G>T XP_011528147.1:p.Glu268Ter
XM_017028560.1:c.1588G>T XP_016884049.1:p.Glu530Ter
XM_017028561.2:c.802G>T XP_016884050.1:p.Glu268Ter
XM_024452148.1:c.1495G>T XP_024307916.1:p.Glu499Ter
XM_024452149.1:c.1408G>T XP_024307917.1:p.Glu470Ter
XR_937805.1:n.1624G>T
XR_937805.2:n.1635G>T