Canonical Allele Identifier: CA409650455

Gene: EEF1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495080C>G , CM000682.2:g.63495080C>G	GRCh38
NC_000020.10:g.62126433C>G , CM000682.1:g.62126433C>G	GRCh37
NC_000020.9:g.61596877C>G	NCBI36
NG_034083.1:g.9236G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001958.5:c.346G>C MANE Select	NP_001949.1:p.Val116Leu
ENST00000217182.6:c.346G>C MANE Select	ENSP00000217182.3:p.Val116Leu
NM_001958.3:c.346G>C	NP_001949.1:p.Val116Leu
NM_001958.4:c.346G>C	NP_001949.1:p.Val116Leu
ENST00000217182.4:c.346G>C	ENSP00000217182.3:p.Val116Leu
ENST00000298049.11:c.346G>C	ENSP00000298049.7:p.Val116Leu
ENST00000298049.12:c.346G>C	ENSP00000298049.8:p.Val116Leu
ENST00000642899.1:c.346G>C	ENSP00000493767.1:p.Val116Leu
ENST00000645357.1:c.346G>C	ENSP00000494971.1:p.Val116Leu
ENST00000645586.1:n.2915G>C
ENST00000675519.1:c.*218G>C	ENSP00000501859.1:n.*218G>C
ENST00000706948.1:c.346G>C	ENSP00000516668.1:p.Val116Leu
ENST00000706949.1:c.346G>C	ENSP00000516669.1:p.Val116Leu