Canonical Allele Identifier: CA214488
Gene: EEF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128959
ClinVar RCV Id: RCV000116940 RCV000991947 RCV001657724
dbSNP Id: rs36527
ExAC: 19:3977486 A / G
gnomAD v2: 19-3977486-A-G
gnomAD v3: 19-3977488-A-G
gnomAD v4: 19-3977488-A-G
MyVariant Identifiers: chr19:g.3977486A>G (hg19) chr19:g.3977488A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3977488A>G , CM000681.2:g.3977488A>G GRCh38
NC_000019.9:g.3977486A>G , CM000681.1:g.3977486A>G GRCh37
NC_000019.8:g.3928486A>G NCBI36
NG_042274.1:g.12976T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309311.7:c.2190T>C MANE Select ENSP00000307940.5:p.Tyr730=
ENST00000309311.6:c.2190T>C ENSP00000307940.5:p.Tyr730=
ENST00000600794.1:c.107+540T>C
NM_001961.3:c.2190T>C NP_001952.1:p.Tyr730=
NM_001961.4:c.2190T>C MANE Select NP_001952.1:p.Tyr730=
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Search 100 bp 3'