Canonical Allele Identifier: CA511206998

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 1138160
• ClinVar RCV Id: RCV001474404
• dbSNP Id: rs760484799
• gnomAD v2: 20-62127353-C-A
• gnomAD v4: 20-63496000-C-A
• MyVariant Identifiers: chr20:g.62127353C>A (hg19) ; chr20:g.63496000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63496000C>A , CM000682.2:g.63496000C>A	GRCh38
NC_000020.10:g.62127353C>A , CM000682.1:g.62127353C>A	GRCh37
NC_000020.9:g.61597797C>A	NCBI36
NG_034083.1:g.8316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.180G>T	ENSP00000516668.1:p.Leu60=
ENST00000706949.1:c.180G>T	ENSP00000516669.1:p.Leu60=
ENST00000217182.6:c.180G>T MANE Select	ENSP00000217182.3:p.Leu60=
ENST00000298049.12:c.180G>T	ENSP00000298049.8:p.Leu60=
ENST00000642899.1:c.180G>T	ENSP00000493767.1:p.Leu60=
ENST00000645357.1:c.180G>T	ENSP00000494971.1:p.Leu60=
ENST00000645586.1:n.2749G>T
ENST00000646335.1:c.180G>T	ENSP00000494752.1:p.Leu60=
ENST00000675519.1:c.*52G>T	ENSP00000501859.1:n.*52G>T
ENST00000217182.4:c.180G>T	ENSP00000217182.3:p.Leu60=
ENST00000298049.11:c.180G>T	ENSP00000298049.7:p.Leu60=
NM_001958.3:c.180G>T	NP_001949.1:p.Leu60=
NM_001958.4:c.180G>T	NP_001949.1:p.Leu60=
NM_001958.5:c.180G>T MANE Select	NP_001949.1:p.Leu60=