Canonical Allele Identifier: CA317442719

Gene: EEF1A2

Linked Data

• dbSNP Id: rs35240649
• MyVariant Identifiers: chr20:g.62127313_62127314insT (hg19) ; chr20:g.63495960_63495961insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495960_63495961insT , CM000682.2:g.63495960_63495961insT	GRCh38
NC_000020.10:g.62127313_62127314insT , CM000682.1:g.62127313_62127314insT	GRCh37
NC_000020.9:g.61597757_61597758insT	NCBI36
NG_034083.1:g.8355_8356insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.219_220insA	ENSP00000516668.1:p.Asp74ArgfsTer?
ENST00000706949.1:c.219_220insA	ENSP00000516669.1:p.Asp74ArgfsTer?
ENST00000217182.6:c.219_220insA MANE Select	ENSP00000217182.3:p.Asp74ArgfsTer?
ENST00000298049.12:c.219_220insA	ENSP00000298049.8:p.Asp74ArgfsTer?
ENST00000642899.1:c.219_220insA	ENSP00000493767.1:p.Asp74ArgfsTer?
ENST00000645357.1:c.219_220insA	ENSP00000494971.1:p.Asp74ArgfsTer?
ENST00000645586.1:n.2788_2789insA
ENST00000646335.1:c.219_220insA	ENSP00000494752.1:p.Asp74ArgfsTer?
ENST00000675519.1:c.*91_*92insA	ENSP00000501859.1:n.*91_*92insA
ENST00000217182.4:c.219_220insA	ENSP00000217182.3:p.Asp74ArgfsTer?
ENST00000298049.11:c.219_220insA	ENSP00000298049.7:p.Asp74ArgfsTer?
NM_001958.3:c.219_220insA	NP_001949.1:p.Asp74ArgfsTer?
NM_001958.4:c.219_220insA	NP_001949.1:p.Asp74ArgfsTer?
NM_001958.5:c.219_220insA MANE Select	NP_001949.1:p.Asp74ArgfsTer?