Canonical Allele Identifier: CA409642849
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488308G>T , CM000682.2:g.63488308G>T GRCh38
NC_000020.10:g.62119661G>T , CM000682.1:g.62119661G>T GRCh37
NC_000020.9:g.61590105G>T NCBI36
NG_034083.1:g.16008C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1382C>A MANE Select NP_001949.1:p.Ala461Glu
ENST00000217182.6:c.1382C>A MANE Select ENSP00000217182.3:p.Ala461Glu
NM_001958.3:c.1382C>A NP_001949.1:p.Ala461Glu
NM_001958.4:c.1382C>A NP_001949.1:p.Ala461Glu
ENST00000217182.4:c.1382C>A ENSP00000217182.3:p.Ala461Glu
ENST00000298049.11:c.1382C>A ENSP00000298049.7:p.Ala461Glu
ENST00000298049.12:c.1350+32C>A ENSP00000298049.8:n.1350+32C>A
ENST00000675519.1:c.*1254C>A ENSP00000501859.1:n.*1254C>A
ENST00000706948.1:c.1340C>A ENSP00000516668.1:p.Ala447Glu
ENST00000706949.1:c.1380+2C>A ENSP00000516669.1:n.1380+2C>A