Canonical Allele Identifier: CA411095387
Community Standard Title: NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695133C>A , CM000684.2:g.28695133C>A GRCh38
NC_000022.10:g.29091121C>A , CM000684.1:g.29091121C>A GRCh37
NC_000022.9:g.27421121C>A NCBI36
NG_008150.1:g.51702G>T
NG_008150.2:g.51734G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1369G>T MANE Select NP_009125.1:p.Glu457Ter
ENST00000404276.6:c.1369G>T MANE Select ENSP00000385747.1:p.Glu457Ter
NM_001005735.1:c.1498G>T NP_001005735.1:p.Glu500Ter
NM_001005735.2:c.1498G>T NP_001005735.1:p.Glu500Ter
NM_001257387.1:c.706G>T NP_001244316.1:p.Glu236Ter
NM_001257387.2:c.706G>T NP_001244316.1:p.Glu236Ter
NM_001349956.1:c.1168G>T NP_001336885.1:p.Glu390Ter
NM_001349956.2:c.1168G>T NP_001336885.1:p.Glu390Ter
NM_007194.3:c.1369G>T NP_009125.1:p.Glu457Ter
NM_145862.2:c.1282G>T NP_665861.1:p.Glu428Ter
ENST00000328354.10:c.1369G>T ENSP00000329178.6:p.Glu457Ter
ENST00000348295.7:c.1282G>T ENSP00000329012.5:p.Glu428Ter
ENST00000382580.6:c.1498G>T ENSP00000372023.2:p.Glu500Ter
ENST00000402731.5:c.1282G>T ENSP00000384835.1:p.Glu428Ter
ENST00000402731.6:c.1168G>T ENSP00000384835.2:p.Glu390Ter
ENST00000403642.5:c.1096G>T ENSP00000384919.1:p.Glu366Ter
ENST00000404276.5:c.1369G>T ENSP00000385747.1:p.Glu457Ter
ENST00000405598.5:c.1369G>T ENSP00000386087.1:p.Glu457Ter
ENST00000416671.5:c.*859G>T ENSP00000402225.1:n.*859G>T
ENST00000417588.5:c.1278G>T ENSP00000412901.1:n.1278G>T
ENST00000425190.7:c.706G>T ENSP00000390244.2:p.Glu236Ter
ENST00000433728.5:c.1307G>T ENSP00000404400.1:n.1307G>T
ENST00000434810.5:c.567G>T
ENST00000448511.5:c.1259G>T ENSP00000404567.1:n.1259G>T
ENST00000456369.5:c.263+4705G>T
ENST00000464581.6:c.709G>T ENSP00000483777.2:p.Glu237Ter
ENST00000648295.1:n.921G>T
ENST00000649563.1:c.706G>T ENSP00000496928.1:p.Glu236Ter
ENST00000650281.1:c.1369G>T ENSP00000497000.1:p.Glu457Ter
ENST00000711048.1:c.*104G>T ENSP00000518557.1:n.*104G>T
XM_006724114.2:c.889G>T XP_006724177.1:p.Glu297Ter
XM_006724114.3:c.922G>T XP_006724177.2:p.Glu308Ter
XM_006724116.2:c.826G>T XP_006724179.2:p.Glu276Ter
XM_011529839.1:c.1528G>T XP_011528141.1:p.Glu510Ter
XM_011529839.2:c.1528G>T XP_011528141.1:p.Glu510Ter
XM_011529840.1:c.1441G>T XP_011528142.1:p.Glu481Ter
XM_011529840.3:c.1441G>T XP_011528142.1:p.Glu481Ter
XM_011529841.1:c.1297G>T XP_011528143.1:p.Glu433Ter
XM_011529842.1:c.1198G>T XP_011528144.1:p.Glu400Ter
XM_011529842.2:c.1198G>T XP_011528144.1:p.Glu400Ter
XM_011529843.1:c.1168G>T XP_011528145.1:p.Glu390Ter
XM_011529845.1:c.706G>T XP_011528147.1:p.Glu236Ter
XM_011529845.2:c.706G>T XP_011528147.1:p.Glu236Ter
XM_017028560.1:c.1492G>T XP_016884049.1:p.Glu498Ter
XM_017028561.2:c.706G>T XP_016884050.1:p.Glu236Ter
XM_024452148.1:c.1399G>T XP_024307916.1:p.Glu467Ter
XM_024452149.1:c.1312G>T XP_024307917.1:p.Glu438Ter
XR_937805.1:n.1528G>T
XR_937805.2:n.1539G>T