Canonical Allele Identifier: CA200125

Gene: EEF1A2

Linked Data

• ClinVar Variation Id: 192251
• ClinVar RCV Id: RCV000172839 ; RCV000845037 ; RCV003444211
• dbSNP Id: rs786205865
• MyVariant Identifiers: chr20:g.62124508C>G (hg19) ; chr20:g.63493155C>G (hg38)
• PubMed: PMID:24697219 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63493155C>G , CM000682.2:g.63493155C>G	GRCh38
NC_000020.10:g.62124508C>G , CM000682.1:g.62124508C>G	GRCh37
NC_000020.9:g.61594952C>G	NCBI36
NG_034083.1:g.11161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.754G>C	ENSP00000516668.1:p.Asp252His
ENST00000706949.1:c.754G>C	ENSP00000516669.1:p.Asp252His
ENST00000217182.6:c.754G>C MANE Select	ENSP00000217182.3:p.Asp252His
ENST00000298049.12:c.754G>C	ENSP00000298049.8:p.Asp252His
ENST00000645586.1:n.3323G>C
ENST00000675519.1:c.*626G>C	ENSP00000501859.1:n.*626G>C
ENST00000217182.4:c.754G>C	ENSP00000217182.3:p.Asp252His
ENST00000298049.11:c.754G>C	ENSP00000298049.7:p.Asp252His
NM_001958.3:c.754G>C	NP_001949.1:p.Asp252His
NM_001958.4:c.754G>C	NP_001949.1:p.Asp252His
NM_001958.5:c.754G>C MANE Select	NP_001949.1:p.Asp252His