Canonical Allele Identifier: CA9088864

Gene: EEF2

Linked Data

• ClinVar Variation Id: 447293
• ClinVar RCV Id: RCV000518076 ; RCV000879153
• dbSNP Id: rs148099639
• ExAC: 19:3979862 G / A
• gnomAD v2: 19-3979862-G-A
• gnomAD v3: 19-3979864-G-A
• gnomAD v4: 19-3979864-G-A
• MyVariant Identifiers: chr19:g.3979862G>A (hg19) ; chr19:g.3979864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3979864G>A , CM000681.2:g.3979864G>A	GRCh38
NC_000019.9:g.3979862G>A , CM000681.1:g.3979862G>A	GRCh37
NC_000019.8:g.3930862G>A	NCBI36
NG_042274.1:g.10600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309311.7:c.1549C>T MANE Select	ENSP00000307940.5:p.Leu517=
ENST00000309311.6:c.1549C>T	ENSP00000307940.5:p.Leu517=
NM_001961.3:c.1549C>T	NP_001952.1:p.Leu517=
NM_001961.4:c.1549C>T MANE Select	NP_001952.1:p.Leu517=