Canonical Allele Identifier: CA200127
Gene: EEF1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 192252
ClinVar RCV Id: RCV000172840 RCV000193799 RCV000622866 RCV001030064 RCV001267946
dbSNP Id: rs786205866
MyVariant Identifiers: chr20:g.62126415C>T (hg19) chr20:g.63495062C>T (hg38)
PubMed: PMID:19636410 PMID:19909265 PMID:23033978 PMID:23647072 PMID:24697219 PMID:26682508 PMID:26740508 PMID:27441201 PMID:28135719 PMID:28263302 PMID:28378778 PMID:28911200
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495062C>T , CM000682.2:g.63495062C>T GRCh38
NC_000020.10:g.62126415C>T , CM000682.1:g.62126415C>T GRCh37
NC_000020.9:g.61596859C>T NCBI36
NG_034083.1:g.9254G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706948.1:c.364G>A ENSP00000516668.1:p.Glu122Lys
ENST00000706949.1:c.364G>A ENSP00000516669.1:p.Glu122Lys
ENST00000217182.6:c.364G>A MANE Select ENSP00000217182.3:p.Glu122Lys
ENST00000298049.12:c.364G>A ENSP00000298049.8:p.Glu122Lys
ENST00000642899.1:c.364G>A ENSP00000493767.1:p.Glu122Lys
ENST00000645357.1:c.364G>A ENSP00000494971.1:p.Glu122Lys
ENST00000645586.1:n.2933G>A
ENST00000675519.1:c.*236G>A ENSP00000501859.1:n.*236G>A
ENST00000217182.4:c.364G>A ENSP00000217182.3:p.Glu122Lys
ENST00000298049.11:c.364G>A ENSP00000298049.7:p.Glu122Lys
NM_001958.3:c.364G>A NP_001949.1:p.Glu122Lys
NM_001958.4:c.364G>A NP_001949.1:p.Glu122Lys
NM_001958.5:c.364G>A MANE Select NP_001949.1:p.Glu122Lys
Search 100 bp 5'
Search 100 bp 3'