Canonical Allele Identifier: CA288284
Community Standard Title: NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694045T>C , CM000684.2:g.28694045T>C GRCh38
NC_000022.10:g.29090033T>C , CM000684.1:g.29090033T>C GRCh37
NC_000022.9:g.27420033T>C NCBI36
NG_008150.1:g.52790A>G
NG_008150.2:g.52822A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1448A>G MANE Select NP_009125.1:p.His483Arg
ENST00000404276.6:c.1448A>G MANE Select ENSP00000385747.1:p.His483Arg
NM_001005735.1:c.1577A>G NP_001005735.1:p.His526Arg
NM_001005735.2:c.1577A>G NP_001005735.1:p.His526Arg
NM_001257387.1:c.785A>G NP_001244316.1:p.His262Arg
NM_001257387.2:c.785A>G NP_001244316.1:p.His262Arg
NM_001349956.1:c.1247A>G NP_001336885.1:p.His416Arg
NM_001349956.2:c.1247A>G NP_001336885.1:p.His416Arg
NM_007194.3:c.1448A>G NP_009125.1:p.His483Arg
NM_145862.2:c.1361A>G NP_665861.1:p.His454Arg
ENST00000328354.10:c.1448A>G ENSP00000329178.6:p.His483Arg
ENST00000348295.7:c.1361A>G ENSP00000329012.5:p.His454Arg
ENST00000382580.6:c.1577A>G ENSP00000372023.2:p.His526Arg
ENST00000402731.5:c.1361A>G ENSP00000384835.1:p.His454Arg
ENST00000402731.6:c.1247A>G ENSP00000384835.2:p.His416Arg
ENST00000403642.5:c.1175A>G ENSP00000384919.1:p.His392Arg
ENST00000404276.5:c.1448A>G ENSP00000385747.1:p.His483Arg
ENST00000405598.5:c.1448A>G ENSP00000386087.1:p.His483Arg
ENST00000416671.5:c.*938A>G ENSP00000402225.1:n.*938A>G
ENST00000417588.5:c.1357A>G ENSP00000412901.1:n.1357A>G
ENST00000425190.7:c.785A>G ENSP00000390244.2:p.His262Arg
ENST00000433728.5:c.1386A>G ENSP00000404400.1:n.1386A>G
ENST00000434810.5:c.646A>G
ENST00000448511.5:c.1338A>G ENSP00000404567.1:n.1338A>G
ENST00000456369.5:c.264-4830A>G
ENST00000464581.6:c.788A>G ENSP00000483777.2:p.His263Arg
ENST00000648295.1:n.1000A>G
ENST00000649563.1:c.785A>G ENSP00000496928.1:p.His262Arg
ENST00000650281.1:c.1448A>G ENSP00000497000.1:p.His483Arg
ENST00000711048.1:c.*183A>G ENSP00000518557.1:n.*183A>G
XM_006724114.2:c.968A>G XP_006724177.1:p.His323Arg
XM_006724114.3:c.1001A>G XP_006724177.2:p.His334Arg
XM_006724116.2:c.905A>G XP_006724179.2:p.His302Arg
XM_011529839.1:c.1607A>G XP_011528141.1:p.His536Arg
XM_011529839.2:c.1607A>G XP_011528141.1:p.His536Arg
XM_011529840.1:c.1520A>G XP_011528142.1:p.His507Arg
XM_011529840.3:c.1520A>G XP_011528142.1:p.His507Arg
XM_011529841.1:c.1376A>G XP_011528143.1:p.His459Arg
XM_011529842.1:c.1277A>G XP_011528144.1:p.His426Arg
XM_011529842.2:c.1277A>G XP_011528144.1:p.His426Arg
XM_011529843.1:c.1247A>G XP_011528145.1:p.His416Arg
XM_011529845.1:c.785A>G XP_011528147.1:p.His262Arg
XM_011529845.2:c.785A>G XP_011528147.1:p.His262Arg
XM_017028560.1:c.1571A>G XP_016884049.1:p.His524Arg
XM_017028561.2:c.785A>G XP_016884050.1:p.His262Arg
XM_024452148.1:c.1478A>G XP_024307916.1:p.His493Arg
XM_024452149.1:c.1391A>G XP_024307917.1:p.His464Arg
XR_937805.1:n.1607A>G
XR_937805.2:n.1618A>G