Canonical Allele Identifier: CA409651651

Gene: EEF1A2

Linked Data

• dbSNP Id: rs1403268075
• gnomAD v2: 20-62127386-C-T
• COSMIC: COSM5909824
• MyVariant Identifiers: chr20:g.62127386C>T (hg19) ; chr20:g.63496033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63496033C>T , CM000682.2:g.63496033C>T	GRCh38
NC_000020.10:g.62127386C>T , CM000682.1:g.62127386C>T	GRCh37
NC_000020.9:g.61597830C>T	NCBI36
NG_034083.1:g.8283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706948.1:c.147G>A	ENSP00000516668.1:p.Met49Ile
ENST00000706949.1:c.147G>A	ENSP00000516669.1:p.Met49Ile
ENST00000217182.6:c.147G>A MANE Select	ENSP00000217182.3:p.Met49Ile
ENST00000298049.12:c.147G>A	ENSP00000298049.8:p.Met49Ile
ENST00000642899.1:c.147G>A	ENSP00000493767.1:p.Met49Ile
ENST00000645357.1:c.147G>A	ENSP00000494971.1:p.Met49Ile
ENST00000645586.1:n.2716G>A
ENST00000646335.1:c.147G>A	ENSP00000494752.1:p.Met49Ile
ENST00000675519.1:c.*19G>A	ENSP00000501859.1:n.*19G>A
ENST00000217182.4:c.147G>A	ENSP00000217182.3:p.Met49Ile
ENST00000298049.11:c.147G>A	ENSP00000298049.7:p.Met49Ile
NM_001958.3:c.147G>A	NP_001949.1:p.Met49Ile
NM_001958.4:c.147G>A	NP_001949.1:p.Met49Ile
NM_001958.5:c.147G>A MANE Select	NP_001949.1:p.Met49Ile