Canonical Allele Identifier: CA746467639

Gene: EEF1A2

Linked Data

• dbSNP Id: rs1443505047
• gnomAD v4: 20-63495716-A-G
• MyVariant Identifiers: chr20:g.62127069A>G (hg19) ; chr20:g.63495716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495716A>G , CM000682.2:g.63495716A>G	GRCh38
NC_000020.10:g.62127069A>G , CM000682.1:g.62127069A>G	GRCh37
NC_000020.9:g.61597513A>G	NCBI36
NG_034083.1:g.8600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.324+140T>C	ENSP00000516668.1:n.324+140T>C
ENST00000706949.1:c.324+140T>C	ENSP00000516669.1:n.324+140T>C
ENST00000217182.6:c.324+140T>C MANE Select	ENSP00000217182.3:n.324+140T>C
ENST00000298049.12:c.324+140T>C	ENSP00000298049.8:n.324+140T>C
ENST00000642899.1:c.324+140T>C	ENSP00000493767.1:n.324+140T>C
ENST00000645357.1:c.324+140T>C	ENSP00000494971.1:n.324+140T>C
ENST00000645586.1:n.2893+140T>C
ENST00000675519.1:c.*196+140T>C	ENSP00000501859.1:n.*196+140T>C
ENST00000217182.4:c.324+140T>C	ENSP00000217182.3:n.324+140T>C
ENST00000298049.11:c.324+140T>C	ENSP00000298049.7:n.324+140T>C
NM_001958.3:c.324+140T>C	NP_001949.1:n.324+140T>C
NM_001958.4:c.324+140T>C	NP_001949.1:n.324+140T>C
NM_001958.5:c.324+140T>C MANE Select	NP_001949.1:n.324+140T>C