Canonical Allele Identifier: CA511204578
Community Standard Title: NM_001958.5(EEF1A2):c.819G>A (p.Arg273=)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63490689C>T , CM000682.2:g.63490689C>T GRCh38
NC_000020.10:g.62122042C>T , CM000682.1:g.62122042C>T GRCh37
NC_000020.9:g.61592486C>T NCBI36
NG_034083.1:g.13627G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.819G>A MANE Select NP_001949.1:p.Arg273=
ENST00000217182.6:c.819G>A MANE Select ENSP00000217182.3:p.Arg273=
NM_001958.3:c.819G>A NP_001949.1:p.Arg273=
NM_001958.4:c.819G>A NP_001949.1:p.Arg273=
ENST00000217182.4:c.819G>A ENSP00000217182.3:p.Arg273=
ENST00000298049.11:c.819G>A ENSP00000298049.7:p.Arg273=
ENST00000298049.12:c.819G>A ENSP00000298049.8:p.Arg273=
ENST00000645586.1:n.3388G>A
ENST00000675519.1:c.*691G>A ENSP00000501859.1:n.*691G>A
ENST00000706948.1:c.819G>A ENSP00000516668.1:p.Arg273=
ENST00000706949.1:c.819G>A ENSP00000516669.1:p.Arg273=