Canonical Allele Identifier: CA511204075

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 476032
• ClinVar RCV Id: RCV000526697 ; RCV002384250
• dbSNP Id: rs200259257
• gnomAD v4: 20-63488394-C-A
• MyVariant Identifiers: chr20:g.62119747C>A (hg19) ; chr20:g.63488394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63488394C>A , CM000682.2:g.63488394C>A	GRCh38
NC_000020.10:g.62119747C>A , CM000682.1:g.62119747C>A	GRCh37
NC_000020.9:g.61590191C>A	NCBI36
NG_034083.1:g.15922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.1265-11G>T	ENSP00000516668.1:n.1265-11G>T
ENST00000706949.1:c.1296G>T	ENSP00000516669.1:p.Thr432=
ENST00000217182.6:c.1296G>T MANE Select	ENSP00000217182.3:p.Thr432=
ENST00000298049.12:c.1296G>T	ENSP00000298049.8:p.Thr432=
ENST00000675519.1:c.*1168G>T	ENSP00000501859.1:n.*1168G>T
ENST00000217182.4:c.1296G>T	ENSP00000217182.3:p.Thr432=
ENST00000298049.11:c.1296G>T	ENSP00000298049.7:p.Thr432=
NM_001958.3:c.1296G>T	NP_001949.1:p.Thr432=
NM_001958.4:c.1296G>T	NP_001949.1:p.Thr432=
NM_001958.5:c.1296G>T MANE Select	NP_001949.1:p.Thr432=