Canonical Allele Identifier: CA16620981

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 423928
• ClinVar RCV Id: RCV000483874
• dbSNP Id: rs1064796704
• gnomAD v4: 20-63488401-C-T
• MyVariant Identifiers: chr20:g.62119754C>T (hg19) ; chr20:g.63488401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63488401C>T , CM000682.2:g.63488401C>T	GRCh38
NC_000020.10:g.62119754C>T , CM000682.1:g.62119754C>T	GRCh37
NC_000020.9:g.61590198C>T	NCBI36
NG_034083.1:g.15915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.1265-18G>A	ENSP00000516668.1:n.1265-18G>A
ENST00000706949.1:c.1289G>A	ENSP00000516669.1:p.Arg430Lys
ENST00000217182.6:c.1289G>A MANE Select	ENSP00000217182.3:p.Arg430Lys
ENST00000298049.12:c.1289G>A	ENSP00000298049.8:p.Arg430Lys
ENST00000675519.1:c.*1161G>A	ENSP00000501859.1:n.*1161G>A
ENST00000217182.4:c.1289G>A	ENSP00000217182.3:p.Arg430Lys
ENST00000298049.11:c.1289G>A	ENSP00000298049.7:p.Arg430Lys
NM_001958.3:c.1289G>A	NP_001949.1:p.Arg430Lys
NM_001958.4:c.1289G>A	NP_001949.1:p.Arg430Lys
NM_001958.5:c.1289G>A MANE Select	NP_001949.1:p.Arg430Lys