Canonical Allele Identifier: CA399826575

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964058C>A (hg19) ; chr17:g.44886690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886690C>A , CM000679.2:g.44886690C>A	GRCh38
NC_000017.10:g.42964058C>A , CM000679.1:g.42964058C>A	GRCh37
NC_000017.9:g.40319584C>A	NCBI36
NG_032674.1:g.17936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.166G>T MANE Select	ENSP00000392094.1:p.Glu56Ter
ENST00000402521.7:c.61G>T	ENSP00000385873.2:p.Glu21Ter
ENST00000426333.6:c.166G>T	ENSP00000392094.1:p.Glu56Ter
ENST00000588374.1:c.82-1356G>T	ENSP00000467639.1:n.82-1356G>T
ENST00000589211.1:n.557G>T
ENST00000589825.5:n.247G>T
ENST00000591382.5:c.166G>T	ENSP00000467805.1:p.Glu56Ter
ENST00000592408.5:n.377G>T
ENST00000592576.5:c.166G>T	ENSP00000465058.1:p.Glu56Ter
ENST00000592701.2:c.166G>T	ENSP00000464908.1:p.Glu56Ter
ENST00000593072.5:c.166G>T	ENSP00000464882.1:p.Glu56Ter
NM_001142605.1:c.61G>T	NP_001136077.1:p.Glu21Ter
NM_001258353.1:c.166G>T	NP_001245282.1:p.Glu56Ter
NM_001258354.1:c.166G>T	NP_001245283.1:p.Glu56Ter
NM_004247.3:c.166G>T	NP_004238.3:p.Glu56Ter
XR_934602.1:n.251G>T
XR_934602.3:n.247G>T
NM_004247.4:c.166G>T MANE Select	NP_004238.3:p.Glu56Ter
NM_001142605.2:c.61G>T	NP_001136077.1:p.Glu21Ter
NM_001258353.2:c.166G>T	NP_001245282.1:p.Glu56Ter
NM_001258354.2:c.166G>T	NP_001245283.1:p.Glu56Ter