Canonical Allele Identifier: CA9088523

Gene: EEF2

Linked Data

• ClinVar Variation Id: 447299
• ClinVar RCV Id: RCV000517918 ; RCV000949611
• dbSNP Id: rs143122141
• ExAC: 19:3976714 G / A
• gnomAD: 19:3976714 G / A
• MyVariant Identifiers: chr19:g.3976714G>A (hg19) ; chr19:g.3976716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3976716G>A , CM000681.2:g.3976716G>A	GRCh38
NC_000019.9:g.3976714G>A , CM000681.1:g.3976714G>A	GRCh37
NC_000019.8:g.3927714G>A	NCBI36
NG_042274.1:g.13748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309311.7:c.2415C>T MANE Select	ENSP00000307940.5:p.Gly805=
ENST00000309311.6:c.2415C>T	ENSP00000307940.5:p.Gly805=
ENST00000600794.1:n.108-416C>T
NM_001961.3:c.2415C>T	NP_001952.1:p.Gly805=
NM_001961.4:c.2415C>T MANE Select	NP_001952.1:p.Gly805=