Canonical Allele Identifier: CA2638259017

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44854779-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854779C>T , CM000679.2:g.44854779C>T	GRCh38
NC_000017.10:g.42932147C>T , CM000679.1:g.42932147C>T	GRCh37
NC_000017.9:g.40287673C>T	NCBI36
NG_032674.1:g.49847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2133-97G>A MANE Select	ENSP00000392094.1:n.2133-97G>A
ENST00000402521.7:c.2028-97G>A	ENSP00000385873.2:n.2028-97G>A
ENST00000426333.6:c.2133-97G>A	ENSP00000392094.1:n.2133-97G>A
ENST00000586276.5:n.1795-97G>A
ENST00000590124.5:c.135-97G>A	ENSP00000467249.1:n.135-97G>A
ENST00000590367.5:n.1861-97G>A
ENST00000590977.5:n.741-97G>A
ENST00000591382.5:c.2133-97G>A	ENSP00000467805.1:n.2133-97G>A
ENST00000592576.5:c.2103-97G>A	ENSP00000465058.1:n.2103-97G>A
NM_001142605.1:c.2028-97G>A	NP_001136077.1:n.2028-97G>A
NM_001258353.1:c.2133-97G>A	NP_001245282.1:n.2133-97G>A
NM_001258354.1:c.2103-97G>A	NP_001245283.1:n.2103-97G>A
NM_004247.3:c.2133-97G>A	NP_004238.3:n.2133-97G>A
XR_934602.1:n.2218-97G>A
XR_934602.3:n.2214-97G>A
NM_004247.4:c.2133-97G>A MANE Select	NP_004238.3:n.2133-97G>A
NM_001142605.2:c.2028-97G>A	NP_001136077.1:n.2028-97G>A
NM_001258353.2:c.2133-97G>A	NP_001245282.1:n.2133-97G>A
NM_001258354.2:c.2103-97G>A	NP_001245283.1:n.2103-97G>A