Canonical Allele Identifier: CA16607653
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379737
ClinVar RCV Id: RCV000444923
dbSNP Id: rs1057520720
MyVariant Identifiers: chr17:g.42945228G>A (hg19) chr17:g.44867860G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44867860G>A , CM000679.2:g.44867860G>A GRCh38
NC_000017.10:g.42945228G>A , CM000679.1:g.42945228G>A GRCh37
NC_000017.9:g.40300754G>A NCBI36
NG_032674.1:g.36766C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1096C>T MANE Select ENSP00000392094.1:p.Gln366Ter
ENST00000402521.7:c.991C>T ENSP00000385873.2:p.Gln331Ter
ENST00000426333.6:c.1096C>T ENSP00000392094.1:p.Gln366Ter
ENST00000586654.5:n.151C>T
ENST00000590367.5:n.824C>T
ENST00000591382.5:c.1096C>T ENSP00000467805.1:p.Gln366Ter
ENST00000591856.1:c.217C>T ENSP00000468284.1:n.217C>T
ENST00000592576.5:c.1066C>T ENSP00000465058.1:p.Gln356Ter
NM_001142605.1:c.991C>T NP_001136077.1:p.Gln331Ter
NM_001258353.1:c.1096C>T NP_001245282.1:p.Gln366Ter
NM_001258354.1:c.1066C>T NP_001245283.1:p.Gln356Ter
NM_004247.3:c.1096C>T NP_004238.3:p.Gln366Ter
XR_934602.1:n.1181C>T
XR_934602.3:n.1177C>T
NM_004247.4:c.1096C>T MANE Select NP_004238.3:p.Gln366Ter
NM_001142605.2:c.991C>T NP_001136077.1:p.Gln331Ter
NM_001258353.2:c.1096C>T NP_001245282.1:p.Gln366Ter
NM_001258354.2:c.1066C>T NP_001245283.1:p.Gln356Ter
Search 100 bp 5'
Search 100 bp 3'