Canonical Allele Identifier: CA264797

Gene: EEF2

Linked Data

• ClinVar Variation Id: 66077
• ClinVar RCV Id: RCV000056312 ; RCV001288169
• dbSNP Id: rs587777052
• gnomAD v4: 19-3978099-G-T
• MyVariant Identifiers: chr19:g.3978097G>T (hg19) ; chr19:g.3978099G>T (hg38)
• PubMed: PMID:15732118 ; PMID:23001565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3978099G>T , CM000681.2:g.3978099G>T	GRCh38
NC_000019.9:g.3978097G>T , CM000681.1:g.3978097G>T	GRCh37
NC_000019.8:g.3929097G>T	NCBI36
NG_042274.1:g.12365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309311.7:c.1787C>A MANE Select	ENSP00000307940.5:p.Pro596His
ENST00000309311.6:c.1787C>A	ENSP00000307940.5:p.Pro596His
ENST00000596417.1:n.205C>A
ENST00000600794.1:c.36C>A
NM_001961.3:c.1787C>A	NP_001952.1:p.Pro596His
NM_001961.4:c.1787C>A MANE Select	NP_001952.1:p.Pro596His