Canonical Allele Identifier: CA511205466

Gene: EEF1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63493222C>G , CM000682.2:g.63493222C>G	GRCh38
NC_000020.10:g.62124575C>G , CM000682.1:g.62124575C>G	GRCh37
NC_000020.9:g.61595019C>G	NCBI36
NG_034083.1:g.11094G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001958.5:c.687G>C MANE Select	NP_001949.1:p.Leu229=
ENST00000217182.6:c.687G>C MANE Select	ENSP00000217182.3:p.Leu229=
NM_001958.3:c.687G>C	NP_001949.1:p.Leu229=
NM_001958.4:c.687G>C	NP_001949.1:p.Leu229=
ENST00000217182.4:c.687G>C	ENSP00000217182.3:p.Leu229=
ENST00000298049.11:c.687G>C	ENSP00000298049.7:p.Leu229=
ENST00000298049.12:c.687G>C	ENSP00000298049.8:p.Leu229=
ENST00000645586.1:n.3256G>C
ENST00000675519.1:c.*559G>C	ENSP00000501859.1:n.*559G>C
ENST00000706948.1:c.687G>C	ENSP00000516668.1:p.Leu229=
ENST00000706949.1:c.687G>C	ENSP00000516669.1:p.Leu229=