Canonical Allele Identifier: CA2739277242

Gene: EEF1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63488421_63488422delinsTT , CM000682.2:g.63488421_63488422delinsTT	GRCh38
NC_000020.10:g.62119774_62119775delinsTT , CM000682.1:g.62119774_62119775delinsTT	GRCh37
NC_000020.9:g.61590218_61590219delinsTT	NCBI36
NG_034083.1:g.15894_15895delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001958.5:c.1268_1269delinsAA MANE Select	NP_001949.1:p.Arg423Gln
ENST00000217182.6:c.1268_1269delinsAA MANE Select	ENSP00000217182.3:p.Arg423Gln
NM_001958.3:c.1268_1269delinsAA	NP_001949.1:p.Arg423Gln
NM_001958.4:c.1268_1269delinsAA	NP_001949.1:p.Arg423Gln
ENST00000217182.4:c.1268_1269delinsAA	ENSP00000217182.3:p.Arg423Gln
ENST00000298049.11:c.1268_1269delinsAA	ENSP00000298049.7:p.Arg423Gln
ENST00000298049.12:c.1268_1269delinsAA	ENSP00000298049.8:p.Arg423Gln
ENST00000675519.1:c.*1140_*1141delinsAA	ENSP00000501859.1:n.*1140_*1141delinsAA
ENST00000706948.1:c.1265-39_1265-38delinsAA	ENSP00000516668.1:n.1265-39_1265-38delinsAA
ENST00000706949.1:c.1268_1269delinsAA	ENSP00000516669.1:p.Arg423Gln