Canonical Allele Identifier: CA10603372
Gene: EEF1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280924
ClinVar RCV Id: RCV000332862 RCV000703667 RCV001260699 RCV002502091
dbSNP Id: rs886042041
MyVariant Identifiers: chr20:g.62126409C>T (hg19) chr20:g.63495056C>T (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495056C>T , CM000682.2:g.63495056C>T GRCh38
NC_000020.10:g.62126409C>T , CM000682.1:g.62126409C>T GRCh37
NC_000020.9:g.61596853C>T NCBI36
NG_034083.1:g.9260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.370G>A ENSP00000516668.1:p.Glu124Lys
ENST00000706949.1:c.370G>A ENSP00000516669.1:p.Glu124Lys
ENST00000217182.6:c.370G>A MANE Select ENSP00000217182.3:p.Glu124Lys
ENST00000298049.12:c.370G>A ENSP00000298049.8:p.Glu124Lys
ENST00000642899.1:c.370G>A ENSP00000493767.1:p.Glu124Lys
ENST00000645357.1:c.370G>A ENSP00000494971.1:p.Glu124Lys
ENST00000645586.1:n.2939G>A
ENST00000675519.1:c.*242G>A ENSP00000501859.1:n.*242G>A
ENST00000217182.4:c.370G>A ENSP00000217182.3:p.Glu124Lys
ENST00000298049.11:c.370G>A ENSP00000298049.7:p.Glu124Lys
NM_001958.3:c.370G>A NP_001949.1:p.Glu124Lys
NM_001958.4:c.370G>A NP_001949.1:p.Glu124Lys
NM_001958.5:c.370G>A MANE Select NP_001949.1:p.Glu124Lys
Search 100 bp 5'
Search 100 bp 3'