Canonical Allele Identifier: CA10588706

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 265111
• ClinVar RCV Id: RCV000255580 ; RCV000623478 ; RCV000688443
• dbSNP Id: rs886039346
• gnomAD v4: 20-63488423-G-A
• MyVariant Identifiers: chr20:g.62119776G>A (hg19) ; chr20:g.63488423G>A (hg38)
• PubMed: PMID:19636410 ; PMID:19909265 ; PMID:23033978 ; PMID:23647072 ; PMID:24697219 ; PMID:26682508 ; PMID:26740508 ; PMID:27441201 ; PMID:28378778 ; PMID:28911200

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63488423G>A , CM000682.2:g.63488423G>A	GRCh38
NC_000020.10:g.62119776G>A , CM000682.1:g.62119776G>A	GRCh37
NC_000020.9:g.61590220G>A	NCBI36
NG_034083.1:g.15893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.1265-40C>T	ENSP00000516668.1:n.1265-40C>T
ENST00000706949.1:c.1267C>T	ENSP00000516669.1:p.Arg423Cys
ENST00000217182.6:c.1267C>T MANE Select	ENSP00000217182.3:p.Arg423Cys
ENST00000298049.12:c.1267C>T	ENSP00000298049.8:p.Arg423Cys
ENST00000675519.1:c.*1139C>T	ENSP00000501859.1:n.*1139C>T
ENST00000217182.4:c.1267C>T	ENSP00000217182.3:p.Arg423Cys
ENST00000298049.11:c.1267C>T	ENSP00000298049.7:p.Arg423Cys
NM_001958.3:c.1267C>T	NP_001949.1:p.Arg423Cys
NM_001958.4:c.1267C>T	NP_001949.1:p.Arg423Cys
NM_001958.5:c.1267C>T MANE Select	NP_001949.1:p.Arg423Cys