Canonical Allele Identifier: CA9959082
Community Standard Title: NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63494894T>C , CM000682.2:g.63494894T>C GRCh38
NC_000020.10:g.62126247T>C , CM000682.1:g.62126247T>C GRCh37
NC_000020.9:g.61596691T>C NCBI36
NG_034083.1:g.9422A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.532A>G MANE Select NP_001949.1:p.Ile178Val
ENST00000217182.6:c.532A>G MANE Select ENSP00000217182.3:p.Ile178Val
NM_001958.3:c.532A>G NP_001949.1:p.Ile178Val
NM_001958.4:c.532A>G NP_001949.1:p.Ile178Val
ENST00000217182.4:c.532A>G ENSP00000217182.3:p.Ile178Val
ENST00000298049.11:c.532A>G ENSP00000298049.7:p.Ile178Val
ENST00000298049.12:c.532A>G ENSP00000298049.8:p.Ile178Val
ENST00000645586.1:n.3101A>G
ENST00000675519.1:c.*404A>G ENSP00000501859.1:n.*404A>G
ENST00000706948.1:c.532A>G ENSP00000516668.1:p.Ile178Val
ENST00000706949.1:c.532A>G ENSP00000516669.1:p.Ile178Val