Canonical Allele Identifier: CA399826762

Gene: EFTUD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44894419C>T , CM000679.2:g.44894419C>T	GRCh38
NC_000017.10:g.42971787C>T , CM000679.1:g.42971787C>T	GRCh37
NC_000017.9:g.40327313C>T	NCBI36
NG_032674.1:g.10207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.103G>A MANE Select	ENSP00000392094.1:p.Glu35Lys
ENST00000402521.7:c.-1+4950G>A	ENSP00000385873.2:n.-1+4950G>A
ENST00000426333.6:c.103G>A	ENSP00000392094.1:p.Glu35Lys
ENST00000588374.1:c.79G>A	ENSP00000467639.1:p.Glu27Lys
ENST00000589825.5:n.184G>A
ENST00000590105.1:n.142G>A
ENST00000591382.5:c.103G>A	ENSP00000467805.1:p.Glu35Lys
ENST00000592408.5:n.142G>A
ENST00000592576.5:c.103G>A	ENSP00000465058.1:p.Glu35Lys
ENST00000592701.2:c.103G>A	ENSP00000464908.1:p.Glu35Lys
ENST00000593072.5:c.103G>A	ENSP00000464882.1:p.Glu35Lys
NM_001142605.1:c.-1+4950G>A	NP_001136077.1:n.-1+4950G>A
NM_001258353.1:c.103G>A	NP_001245282.1:p.Glu35Lys
NM_001258354.1:c.103G>A	NP_001245283.1:p.Glu35Lys
NM_004247.3:c.103G>A	NP_004238.3:p.Glu35Lys
XR_934602.1:n.188G>A
XR_934602.3:n.184G>A
NM_004247.4:c.103G>A MANE Select	NP_004238.3:p.Glu35Lys
NM_001142605.2:c.-1+4950G>A	NP_001136077.1:n.-1+4950G>A
NM_001258353.2:c.103G>A	NP_001245282.1:p.Glu35Lys
NM_001258354.2:c.103G>A	NP_001245283.1:p.Glu35Lys