Canonical Allele Identifier: CA411095848
Community Standard Title: NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695175C>A , CM000684.2:g.28695175C>A GRCh38
NC_000022.10:g.29091163C>A , CM000684.1:g.29091163C>A GRCh37
NC_000022.9:g.27421163C>A NCBI36
NG_008150.1:g.51660G>T
NG_008150.2:g.51692G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1327G>T MANE Select NP_009125.1:p.Gly443Ter
ENST00000404276.6:c.1327G>T MANE Select ENSP00000385747.1:p.Gly443Ter
NM_001005735.1:c.1456G>T NP_001005735.1:p.Gly486Ter
NM_001005735.2:c.1456G>T NP_001005735.1:p.Gly486Ter
NM_001257387.1:c.664G>T NP_001244316.1:p.Gly222Ter
NM_001257387.2:c.664G>T NP_001244316.1:p.Gly222Ter
NM_001349956.1:c.1126G>T NP_001336885.1:p.Gly376Ter
NM_001349956.2:c.1126G>T NP_001336885.1:p.Gly376Ter
NM_007194.3:c.1327G>T NP_009125.1:p.Gly443Ter
NM_145862.2:c.1240G>T NP_665861.1:p.Gly414Ter
ENST00000328354.10:c.1327G>T ENSP00000329178.6:p.Gly443Ter
ENST00000348295.7:c.1240G>T ENSP00000329012.5:p.Gly414Ter
ENST00000382580.6:c.1456G>T ENSP00000372023.2:p.Gly486Ter
ENST00000402731.5:c.1240G>T ENSP00000384835.1:p.Gly414Ter
ENST00000402731.6:c.1126G>T ENSP00000384835.2:p.Gly376Ter
ENST00000403642.5:c.1054G>T ENSP00000384919.1:p.Gly352Ter
ENST00000404276.5:c.1327G>T ENSP00000385747.1:p.Gly443Ter
ENST00000405598.5:c.1327G>T ENSP00000386087.1:p.Gly443Ter
ENST00000416671.5:c.*817G>T ENSP00000402225.1:n.*817G>T
ENST00000417588.5:c.1236G>T ENSP00000412901.1:n.1236G>T
ENST00000425190.7:c.664G>T ENSP00000390244.2:p.Gly222Ter
ENST00000433728.5:c.1265G>T ENSP00000404400.1:n.1265G>T
ENST00000434810.5:c.525G>T
ENST00000448511.5:c.1217G>T ENSP00000404567.1:n.1217G>T
ENST00000456369.5:c.263+4663G>T
ENST00000464581.6:c.667G>T ENSP00000483777.2:p.Gly223Ter
ENST00000648295.1:n.879G>T
ENST00000649563.1:c.664G>T ENSP00000496928.1:p.Gly222Ter
ENST00000650281.1:c.1327G>T ENSP00000497000.1:p.Gly443Ter
ENST00000711048.1:c.*62G>T ENSP00000518557.1:n.*62G>T
XM_006724114.2:c.847G>T XP_006724177.1:p.Gly283Ter
XM_006724114.3:c.880G>T XP_006724177.2:p.Gly294Ter
XM_006724116.2:c.784G>T XP_006724179.2:p.Gly262Ter
XM_011529839.1:c.1486G>T XP_011528141.1:p.Gly496Ter
XM_011529839.2:c.1486G>T XP_011528141.1:p.Gly496Ter
XM_011529840.1:c.1399G>T XP_011528142.1:p.Gly467Ter
XM_011529840.3:c.1399G>T XP_011528142.1:p.Gly467Ter
XM_011529841.1:c.1255G>T XP_011528143.1:p.Gly419Ter
XM_011529842.1:c.1156G>T XP_011528144.1:p.Gly386Ter
XM_011529842.2:c.1156G>T XP_011528144.1:p.Gly386Ter
XM_011529843.1:c.1126G>T XP_011528145.1:p.Gly376Ter
XM_011529845.1:c.664G>T XP_011528147.1:p.Gly222Ter
XM_011529845.2:c.664G>T XP_011528147.1:p.Gly222Ter
XM_017028560.1:c.1450G>T XP_016884049.1:p.Gly484Ter
XM_017028561.2:c.664G>T XP_016884050.1:p.Gly222Ter
XM_024452148.1:c.1357G>T XP_024307916.1:p.Gly453Ter
XM_024452149.1:c.1270G>T XP_024307917.1:p.Gly424Ter
XR_937805.1:n.1486G>T
XR_937805.2:n.1497G>T