Canonical Allele Identifier: CA2653814129

Gene: EEF1A2

Linked Data

• gnomAD v4: 20-63495803-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495803C>T , CM000682.2:g.63495803C>T	GRCh38
NC_000020.10:g.62127156C>T , CM000682.1:g.62127156C>T	GRCh37
NC_000020.9:g.61597600C>T	NCBI36
NG_034083.1:g.8513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.324+53G>A	ENSP00000516668.1:n.324+53G>A
ENST00000706949.1:c.324+53G>A	ENSP00000516669.1:n.324+53G>A
ENST00000217182.6:c.324+53G>A MANE Select	ENSP00000217182.3:n.324+53G>A
ENST00000298049.12:c.324+53G>A	ENSP00000298049.8:n.324+53G>A
ENST00000642899.1:c.324+53G>A	ENSP00000493767.1:n.324+53G>A
ENST00000645357.1:c.324+53G>A	ENSP00000494971.1:n.324+53G>A
ENST00000645586.1:n.2893+53G>A
ENST00000675519.1:c.*196+53G>A	ENSP00000501859.1:n.*196+53G>A
ENST00000217182.4:c.324+53G>A	ENSP00000217182.3:n.324+53G>A
ENST00000298049.11:c.324+53G>A	ENSP00000298049.7:n.324+53G>A
NM_001958.3:c.324+53G>A	NP_001949.1:n.324+53G>A
NM_001958.4:c.324+53G>A	NP_001949.1:n.324+53G>A
NM_001958.5:c.324+53G>A MANE Select	NP_001949.1:n.324+53G>A