Canonical Allele Identifier: CA511206966
Gene: EEF1A2 HGNC NCBI

Linked Data

dbSNP Id: rs2082414713
MyVariant Identifiers: chr20:g.62127344C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495991C>A , CM000682.2:g.63495991C>A GRCh38
NC_000020.10:g.62127344C>A , CM000682.1:g.62127344C>A GRCh37
NC_000020.9:g.61597788C>A NCBI36
NG_034083.1:g.8325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.189G>T ENSP00000516668.1:p.Leu63=
ENST00000706949.1:c.189G>T ENSP00000516669.1:p.Leu63=
ENST00000217182.6:c.189G>T MANE Select ENSP00000217182.3:p.Leu63=
ENST00000298049.12:c.189G>T ENSP00000298049.8:p.Leu63=
ENST00000642899.1:c.189G>T ENSP00000493767.1:p.Leu63=
ENST00000645357.1:c.189G>T ENSP00000494971.1:p.Leu63=
ENST00000645586.1:n.2758G>T
ENST00000646335.1:c.189G>T ENSP00000494752.1:p.Leu63=
ENST00000675519.1:c.*61G>T ENSP00000501859.1:n.*61G>T
ENST00000217182.4:c.189G>T ENSP00000217182.3:p.Leu63=
ENST00000298049.11:c.189G>T ENSP00000298049.7:p.Leu63=
NM_001958.3:c.189G>T NP_001949.1:p.Leu63=
NM_001958.4:c.189G>T NP_001949.1:p.Leu63=
NM_001958.5:c.189G>T MANE Select NP_001949.1:p.Leu63=