Canonical Allele Identifier: CA2374819757
Community Standard Title: NM_001958.5(EEF1A2):c.1267C= (p.Arg423=)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488423G= , CM000682.2:g.63488423G= GRCh38
NC_000020.10:g.62119776G= , CM000682.1:g.62119776G= GRCh37
NC_000020.9:g.61590220G= NCBI36
NG_034083.1:g.15893C=

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1267C= MANE Select NP_001949.1:p.Arg423=
ENST00000217182.6:c.1267C= MANE Select ENSP00000217182.3:p.Arg423=
NM_001958.3:c.1267C= NP_001949.1:p.Arg423=
NM_001958.4:c.1267C= NP_001949.1:p.Arg423=
ENST00000217182.4:c.1267C= ENSP00000217182.3:p.Arg423=
ENST00000298049.11:c.1267C= ENSP00000298049.7:p.Arg423=
ENST00000298049.12:c.1267C= ENSP00000298049.8:p.Arg423=
ENST00000675519.1:c.*1139C= ENSP00000501859.1:n.*1139C=
ENST00000706948.1:c.1265-40C= ENSP00000516668.1:n.1265-40C=
ENST00000706949.1:c.1267C= ENSP00000516669.1:p.Arg423=