Canonical Allele Identifier: CA636614373

Gene: EEF1A2

Linked Data

• dbSNP Id: rs1568997473
• gnomAD v2: 20-62127426-G-GGGACCCA
• gnomAD v4: 20-63496073-G-GGGACCCA
• MyVariant Identifiers: chr20:g.62127426_62127427insGGACCCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63496077_63496083dup , CM000682.2:g.63496077_63496083dup	GRCh38
NC_000020.10:g.62127430_62127436dup , CM000682.1:g.62127430_62127436dup	GRCh37
NC_000020.9:g.61597874_61597880dup	NCBI36
NG_034083.1:g.8236_8242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.145-45_145-39dup	ENSP00000516668.1:n.145-45_145-39dup
ENST00000706949.1:c.145-45_145-39dup	ENSP00000516669.1:n.145-45_145-39dup
ENST00000217182.6:c.145-45_145-39dup MANE Select	ENSP00000217182.3:n.145-45_145-39dup
ENST00000298049.12:c.145-45_145-39dup	ENSP00000298049.8:n.145-45_145-39dup
ENST00000642899.1:c.145-45_145-39dup	ENSP00000493767.1:n.145-45_145-39dup
ENST00000645357.1:c.145-45_145-39dup	ENSP00000494971.1:n.145-45_145-39dup
ENST00000645586.1:n.2669_2675dup
ENST00000646335.1:c.145-45_145-39dup	ENSP00000494752.1:n.145-45_145-39dup
ENST00000675519.1:c.152_158dup	ENSP00000501859.1:p.Pro57ValfsTer27
ENST00000217182.4:c.145-45_145-39dup	ENSP00000217182.3:n.145-45_145-39dup
ENST00000298049.11:c.145-45_145-39dup	ENSP00000298049.7:n.145-45_145-39dup
NM_001958.3:c.145-45_145-39dup	NP_001949.1:n.145-45_145-39dup
NM_001958.4:c.145-45_145-39dup	NP_001949.1:n.145-45_145-39dup
NM_001958.5:c.145-45_145-39dup MANE Select	NP_001949.1:n.145-45_145-39dup