Canonical Allele Identifier: CA411094034
Community Standard Title: NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694049T>A , CM000684.2:g.28694049T>A GRCh38
NC_000022.10:g.29090037T>A , CM000684.1:g.29090037T>A GRCh37
NC_000022.9:g.27420037T>A NCBI36
NG_008150.1:g.52786A>T
NG_008150.2:g.52818A>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1444A>T MANE Select NP_009125.1:p.Arg482Ter
ENST00000404276.6:c.1444A>T MANE Select ENSP00000385747.1:p.Arg482Ter
NM_001005735.1:c.1573A>T NP_001005735.1:p.Arg525Ter
NM_001005735.2:c.1573A>T NP_001005735.1:p.Arg525Ter
NM_001257387.1:c.781A>T NP_001244316.1:p.Arg261Ter
NM_001257387.2:c.781A>T NP_001244316.1:p.Arg261Ter
NM_001349956.1:c.1243A>T NP_001336885.1:p.Arg415Ter
NM_001349956.2:c.1243A>T NP_001336885.1:p.Arg415Ter
NM_007194.3:c.1444A>T NP_009125.1:p.Arg482Ter
NM_145862.2:c.1357A>T NP_665861.1:p.Arg453Ter
ENST00000328354.10:c.1444A>T ENSP00000329178.6:p.Arg482Ter
ENST00000348295.7:c.1357A>T ENSP00000329012.5:p.Arg453Ter
ENST00000382580.6:c.1573A>T ENSP00000372023.2:p.Arg525Ter
ENST00000402731.5:c.1357A>T ENSP00000384835.1:p.Arg453Ter
ENST00000402731.6:c.1243A>T ENSP00000384835.2:p.Arg415Ter
ENST00000403642.5:c.1171A>T ENSP00000384919.1:p.Arg391Ter
ENST00000404276.5:c.1444A>T ENSP00000385747.1:p.Arg482Ter
ENST00000405598.5:c.1444A>T ENSP00000386087.1:p.Arg482Ter
ENST00000416671.5:c.*934A>T ENSP00000402225.1:n.*934A>T
ENST00000417588.5:c.1353A>T ENSP00000412901.1:n.1353A>T
ENST00000425190.7:c.781A>T ENSP00000390244.2:p.Arg261Ter
ENST00000433728.5:c.1382A>T ENSP00000404400.1:n.1382A>T
ENST00000434810.5:c.642A>T
ENST00000448511.5:c.1334A>T ENSP00000404567.1:n.1334A>T
ENST00000456369.5:c.264-4834A>T
ENST00000464581.6:c.784A>T ENSP00000483777.2:p.Arg262Ter
ENST00000648295.1:n.996A>T
ENST00000649563.1:c.781A>T ENSP00000496928.1:p.Arg261Ter
ENST00000650281.1:c.1444A>T ENSP00000497000.1:p.Arg482Ter
ENST00000711048.1:c.*179A>T ENSP00000518557.1:n.*179A>T
XM_006724114.2:c.964A>T XP_006724177.1:p.Arg322Ter
XM_006724114.3:c.997A>T XP_006724177.2:p.Arg333Ter
XM_006724116.2:c.901A>T XP_006724179.2:p.Arg301Ter
XM_011529839.1:c.1603A>T XP_011528141.1:p.Arg535Ter
XM_011529839.2:c.1603A>T XP_011528141.1:p.Arg535Ter
XM_011529840.1:c.1516A>T XP_011528142.1:p.Arg506Ter
XM_011529840.3:c.1516A>T XP_011528142.1:p.Arg506Ter
XM_011529841.1:c.1372A>T XP_011528143.1:p.Arg458Ter
XM_011529842.1:c.1273A>T XP_011528144.1:p.Arg425Ter
XM_011529842.2:c.1273A>T XP_011528144.1:p.Arg425Ter
XM_011529843.1:c.1243A>T XP_011528145.1:p.Arg415Ter
XM_011529845.1:c.781A>T XP_011528147.1:p.Arg261Ter
XM_011529845.2:c.781A>T XP_011528147.1:p.Arg261Ter
XM_017028560.1:c.1567A>T XP_016884049.1:p.Arg523Ter
XM_017028561.2:c.781A>T XP_016884050.1:p.Arg261Ter
XM_024452148.1:c.1474A>T XP_024307916.1:p.Arg492Ter
XM_024452149.1:c.1387A>T XP_024307917.1:p.Arg463Ter
XR_937805.1:n.1603A>T
XR_937805.2:n.1614A>T