Canonical Allele Identifier: CA317442721

Gene: EEF1A2

Linked Data

• dbSNP Id: rs1037917137
• MyVariant Identifiers: chr20:g.62127324_62127325insCGCGCT (hg19) ; chr20:g.63495971_63495972insCGCGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495973_63495978dup , CM000682.2:g.63495973_63495978dup	GRCh38
NC_000020.10:g.62127326_62127331dup , CM000682.1:g.62127326_62127331dup	GRCh37
NC_000020.9:g.61597770_61597775dup	NCBI36
NG_034083.1:g.8339_8344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.203_208dup	ENSP00000516668.1:p.Arg69_Gly70insGluArg
ENST00000706949.1:c.203_208dup	ENSP00000516669.1:p.Arg69_Gly70insGluArg
ENST00000217182.6:c.203_208dup MANE Select	ENSP00000217182.3:p.Arg69_Gly70insGluArg
ENST00000298049.12:c.203_208dup	ENSP00000298049.8:p.Arg69_Gly70insGluArg
ENST00000642899.1:c.203_208dup	ENSP00000493767.1:p.Arg69_Gly70insGluArg
ENST00000645357.1:c.203_208dup	ENSP00000494971.1:p.Arg69_Gly70insGluArg
ENST00000645586.1:n.2772_2777dup
ENST00000646335.1:c.203_208dup	ENSP00000494752.1:p.Arg69_Gly70insGluArg
ENST00000675519.1:c.*75_*80dup	ENSP00000501859.1:n.*75_*80dup
ENST00000217182.4:c.203_208dup	ENSP00000217182.3:p.Arg69_Gly70insGluArg
ENST00000298049.11:c.203_208dup	ENSP00000298049.7:p.Arg69_Gly70insGluArg
NM_001958.3:c.203_208dup	NP_001949.1:p.Arg69_Gly70insGluArg
NM_001958.4:c.203_208dup	NP_001949.1:p.Arg69_Gly70insGluArg
NM_001958.5:c.203_208dup MANE Select	NP_001949.1:p.Arg69_Gly70insGluArg