Canonical Allele Identifier: CA2374824136

Gene: EEF1A2

Linked Data

• dbSNP Id: rs2082414919
• gnomAD v4: 20-63496040-A-AGCGGGTGAGGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63496041_63496053dup , CM000682.2:g.63496041_63496053dup	GRCh38
NC_000020.10:g.62127394_62127406dup , CM000682.1:g.62127394_62127406dup	GRCh37
NC_000020.9:g.61597838_61597850dup	NCBI36
NG_034083.1:g.8263_8275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.145-18_145-6dup	ENSP00000516668.1:n.145-18_145-6dup
ENST00000706949.1:c.145-18_145-6dup	ENSP00000516669.1:n.145-18_145-6dup
ENST00000217182.6:c.145-18_145-6dup MANE Select	ENSP00000217182.3:n.145-18_145-6dup
ENST00000298049.12:c.145-18_145-6dup	ENSP00000298049.8:n.145-18_145-6dup
ENST00000642899.1:c.145-18_145-6dup	ENSP00000493767.1:n.145-18_145-6dup
ENST00000645357.1:c.145-18_145-6dup	ENSP00000494971.1:n.145-18_145-6dup
ENST00000645586.1:n.2696_2708dup
ENST00000646335.1:c.145-18_145-6dup	ENSP00000494752.1:n.145-18_145-6dup
ENST00000675519.1:c.179_*11dup	ENSP00000501859.1:n.179_*11dup
ENST00000217182.4:c.145-18_145-6dup	ENSP00000217182.3:n.145-18_145-6dup
ENST00000298049.11:c.145-18_145-6dup	ENSP00000298049.7:n.145-18_145-6dup
NM_001958.3:c.145-18_145-6dup	NP_001949.1:n.145-18_145-6dup
NM_001958.4:c.145-18_145-6dup	NP_001949.1:n.145-18_145-6dup
NM_001958.5:c.145-18_145-6dup MANE Select	NP_001949.1:n.145-18_145-6dup