Canonical Allele Identifier: CA500312571

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42937273C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859905C>T , CM000679.2:g.44859905C>T	GRCh38
NC_000017.10:g.42937273C>T , CM000679.1:g.42937273C>T	GRCh37
NC_000017.9:g.40292799C>T	NCBI36
NG_032674.1:g.44721G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1860G>A MANE Select	ENSP00000392094.1:p.Lys620=
ENST00000402521.7:c.1755G>A	ENSP00000385873.2:p.Lys585=
ENST00000426333.6:c.1860G>A	ENSP00000392094.1:p.Lys620=
ENST00000586276.5:n.1522G>A
ENST00000590367.5:n.1588G>A
ENST00000591382.5:c.1860G>A	ENSP00000467805.1:p.Lys620=
ENST00000592576.5:c.1830G>A	ENSP00000465058.1:p.Lys610=
NM_001142605.1:c.1755G>A	NP_001136077.1:p.Lys585=
NM_001258353.1:c.1860G>A	NP_001245282.1:p.Lys620=
NM_001258354.1:c.1830G>A	NP_001245283.1:p.Lys610=
NM_004247.3:c.1860G>A	NP_004238.3:p.Lys620=
XR_934602.1:n.1945G>A
XR_934602.3:n.1941G>A
NM_004247.4:c.1860G>A MANE Select	NP_004238.3:p.Lys620=
NM_001142605.2:c.1755G>A	NP_001136077.1:p.Lys585=
NM_001258353.2:c.1860G>A	NP_001245282.1:p.Lys620=
NM_001258354.2:c.1830G>A	NP_001245283.1:p.Lys610=