Canonical Allele Identifier: CA411092388
Community Standard Title: NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689167C>A , CM000684.2:g.28689167C>A GRCh38
NC_000022.10:g.29085155C>A , CM000684.1:g.29085155C>A GRCh37
NC_000022.9:g.27415155C>A NCBI36
NG_008150.1:g.57668G>T
NG_008150.2:g.57700G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1510G>T MANE Select NP_009125.1:p.Glu504Ter
ENST00000404276.6:c.1510G>T MANE Select ENSP00000385747.1:p.Glu504Ter
NM_001005735.1:c.1639G>T NP_001005735.1:p.Glu547Ter
NM_001005735.2:c.1639G>T NP_001005735.1:p.Glu547Ter
NM_001257387.1:c.847G>T NP_001244316.1:p.Glu283Ter
NM_001257387.2:c.847G>T NP_001244316.1:p.Glu283Ter
NM_001349956.1:c.1309G>T NP_001336885.1:p.Glu437Ter
NM_001349956.2:c.1309G>T NP_001336885.1:p.Glu437Ter
NM_007194.3:c.1510G>T NP_009125.1:p.Glu504Ter
NM_145862.2:c.1423G>T NP_665861.1:p.Glu475Ter
ENST00000328354.10:c.1510G>T ENSP00000329178.6:p.Glu504Ter
ENST00000348295.7:c.1423G>T ENSP00000329012.5:p.Glu475Ter
ENST00000382580.6:c.1639G>T ENSP00000372023.2:p.Glu547Ter
ENST00000402731.5:c.1423G>T ENSP00000384835.1:p.Glu475Ter
ENST00000402731.6:c.1309G>T ENSP00000384835.2:p.Glu437Ter
ENST00000403642.5:c.1237G>T ENSP00000384919.1:p.Glu413Ter
ENST00000404276.5:c.1510G>T ENSP00000385747.1:p.Glu504Ter
ENST00000405598.5:c.1510G>T ENSP00000386087.1:p.Glu504Ter
ENST00000416671.5:c.*1000G>T ENSP00000402225.1:n.*1000G>T
ENST00000417588.5:c.1419G>T ENSP00000412901.1:n.1419G>T
ENST00000425190.7:c.847G>T ENSP00000390244.2:p.Glu283Ter
ENST00000433728.5:c.1448G>T ENSP00000404400.1:n.1448G>T
ENST00000434810.5:c.708G>T
ENST00000448511.5:c.1400G>T ENSP00000404567.1:n.1400G>T
ENST00000456369.5:c.312G>T
ENST00000464581.6:c.850G>T ENSP00000483777.2:p.Glu284Ter
ENST00000472807.1:n.244G>T
ENST00000648295.1:n.1062G>T
ENST00000649563.1:c.847G>T ENSP00000496928.1:p.Glu283Ter
ENST00000650281.1:c.1510G>T ENSP00000497000.1:p.Glu504Ter
ENST00000711048.1:c.*245G>T ENSP00000518557.1:n.*245G>T
XM_006724114.2:c.1030G>T XP_006724177.1:p.Glu344Ter
XM_006724114.3:c.1063G>T XP_006724177.2:p.Glu355Ter
XM_006724116.2:c.967G>T XP_006724179.2:p.Glu323Ter
XM_011529839.1:c.1669G>T XP_011528141.1:p.Glu557Ter
XM_011529839.2:c.1669G>T XP_011528141.1:p.Glu557Ter
XM_011529840.1:c.1582G>T XP_011528142.1:p.Glu528Ter
XM_011529840.3:c.1582G>T XP_011528142.1:p.Glu528Ter
XM_011529841.1:c.1438G>T XP_011528143.1:p.Glu480Ter
XM_011529842.1:c.1339G>T XP_011528144.1:p.Glu447Ter
XM_011529842.2:c.1339G>T XP_011528144.1:p.Glu447Ter
XM_011529843.1:c.1309G>T XP_011528145.1:p.Glu437Ter
XM_011529845.1:c.847G>T XP_011528147.1:p.Glu283Ter
XM_011529845.2:c.847G>T XP_011528147.1:p.Glu283Ter
XM_017028560.1:c.1633G>T XP_016884049.1:p.Glu545Ter
XM_017028561.2:c.847G>T XP_016884050.1:p.Glu283Ter
XM_024452148.1:c.1540G>T XP_024307916.1:p.Glu514Ter
XM_024452149.1:c.1453G>T XP_024307917.1:p.Glu485Ter
XR_937805.1:n.1669G>T
XR_937805.2:n.1680G>T