Canonical Allele Identifier: CA16620455
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424610
ClinVar RCV Id: RCV000485356
dbSNP Id: rs1064797069

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44880595del , CM000679.2:g.44880595del GRCh38
NC_000017.10:g.42957963del , CM000679.1:g.42957963del GRCh37
NC_000017.9:g.40313489del NCBI36
NG_032674.1:g.24032del

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.579del MANE Select ENSP00000392094.1:p.Gly195GlufsTer15
ENST00000402521.7:c.474del ENSP00000385873.2:p.Gly160GlufsTer15
ENST00000426333.6:c.579del ENSP00000392094.1:p.Gly195GlufsTer15
ENST00000586875.1:n.208del
ENST00000588374.1:c.389del ENSP00000467639.1:n.389del
ENST00000589475.1:n.37del
ENST00000591382.5:c.579del ENSP00000467805.1:p.Gly195GlufsTer15
ENST00000592576.5:c.549del ENSP00000465058.1:p.Gly185GlufsTer15
ENST00000593200.5:n.200del
NM_001142605.1:c.474del NP_001136077.1:p.Gly160GlufsTer15
NM_001258353.1:c.579del NP_001245282.1:p.Gly195GlufsTer15
NM_001258354.1:c.549del NP_001245283.1:p.Gly185GlufsTer15
NM_004247.3:c.579del NP_004238.3:p.Gly195GlufsTer15
XR_934602.1:n.664del
XR_934602.3:n.660del
NM_004247.4:c.579del MANE Select NP_004238.3:p.Gly195GlufsTer15
NM_001142605.2:c.474del NP_001136077.1:p.Gly160GlufsTer15
NM_001258353.2:c.579del NP_001245282.1:p.Gly195GlufsTer15
NM_001258354.2:c.549del NP_001245283.1:p.Gly185GlufsTer15