Canonical Allele Identifier: CA9088523
Gene: EEF2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.3976716G>A
GRCh37 chr19:g.3976714G>A
gnomAD v2:
19:3976714 G / A
gnomAD v3:
19:3976716 G / A
gnomAD v4:
chr19-3976716-G-A
Joint Max Group AF 0.00198996 (NFE)
Genomes Max Group AF 0.00167055 (NFE)
Exomes Max Group AF 0.00199481 (NFE)
ClinVar RCV:
RCV000517918
RCV000949611
ClinVar Variation:
447299
dbSNP:
143122141
JSON-LD

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:c.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=
Search 100 bp 5'
Search 100 bp 3'