Canonical Allele Identifier: CA636614360

Gene: EEF1A2

Linked Data

• dbSNP Id: rs1218245102
• gnomAD v2: 20-62127177-TC-T
• gnomAD v3: 20-63495824-TC-T
• gnomAD v4: 20-63495824-TC-T
• MyVariant Identifiers: chr20:g.62127178del (hg19) ; chr20:g.63495825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63495829del , CM000682.2:g.63495829del	GRCh38
NC_000020.10:g.62127182del , CM000682.1:g.62127182del	GRCh37
NC_000020.9:g.61597626del	NCBI36
NG_034083.1:g.8491del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706948.1:c.324+31del	ENSP00000516668.1:n.324+31del
ENST00000706949.1:c.324+31del	ENSP00000516669.1:n.324+31del
ENST00000217182.6:c.324+31del MANE Select	ENSP00000217182.3:n.324+31del
ENST00000298049.12:c.324+31del	ENSP00000298049.8:n.324+31del
ENST00000642899.1:c.324+31del	ENSP00000493767.1:n.324+31del
ENST00000645357.1:c.324+31del	ENSP00000494971.1:n.324+31del
ENST00000645586.1:n.2893+31del
ENST00000675519.1:c.*196+31del	ENSP00000501859.1:n.*196+31del
ENST00000217182.4:c.324+31del	ENSP00000217182.3:n.324+31del
ENST00000298049.11:c.324+31del	ENSP00000298049.7:n.324+31del
NM_001958.3:c.324+31del	NP_001949.1:n.324+31del
NM_001958.4:c.324+31del	NP_001949.1:n.324+31del
NM_001958.5:c.324+31del MANE Select	NP_001949.1:n.324+31del