Canonical Allele Identifier: CA409647333

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 2431392
• ClinVar RCV Id: RCV003140445 ; RCV003753261
• dbSNP Id: rs935904739
• MyVariant Identifiers: chr20:g.62121903T>C (hg19) ; chr20:g.63490550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63490550T>C , CM000682.2:g.63490550T>C	GRCh38
NC_000020.10:g.62121903T>C , CM000682.1:g.62121903T>C	GRCh37
NC_000020.9:g.61592347T>C	NCBI36
NG_034083.1:g.13766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.958A>G	ENSP00000516668.1:p.Ile320Val
ENST00000706949.1:c.958A>G	ENSP00000516669.1:p.Ile320Val
ENST00000217182.6:c.958A>G MANE Select	ENSP00000217182.3:p.Ile320Val
ENST00000298049.12:c.958A>G	ENSP00000298049.8:p.Ile320Val
ENST00000645586.1:n.3527A>G
ENST00000675519.1:c.*830A>G	ENSP00000501859.1:n.*830A>G
ENST00000217182.4:c.958A>G	ENSP00000217182.3:p.Ile320Val
ENST00000298049.11:c.958A>G	ENSP00000298049.7:p.Ile320Val
NM_001958.3:c.958A>G	NP_001949.1:p.Ile320Val
NM_001958.4:c.958A>G	NP_001949.1:p.Ile320Val
NM_001958.5:c.958A>G MANE Select	NP_001949.1:p.Ile320Val