Canonical Allele Identifier: CA399826560

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964056C>A (hg19) ; chr17:g.44886688C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886688C>A , CM000679.2:g.44886688C>A	GRCh38
NC_000017.10:g.42964056C>A , CM000679.1:g.42964056C>A	GRCh37
NC_000017.9:g.40319582C>A	NCBI36
NG_032674.1:g.17938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.168G>T MANE Select	ENSP00000392094.1:p.Glu56Asp
ENST00000402521.7:c.63G>T	ENSP00000385873.2:p.Glu21Asp
ENST00000426333.6:c.168G>T	ENSP00000392094.1:p.Glu56Asp
ENST00000588374.1:c.82-1354G>T	ENSP00000467639.1:n.82-1354G>T
ENST00000589211.1:n.559G>T
ENST00000589825.5:n.249G>T
ENST00000591382.5:c.168G>T	ENSP00000467805.1:p.Glu56Asp
ENST00000592408.5:n.379G>T
ENST00000592576.5:c.168G>T	ENSP00000465058.1:p.Glu56Asp
ENST00000592701.2:c.168G>T	ENSP00000464908.1:p.Glu56Asp
ENST00000593072.5:c.168G>T	ENSP00000464882.1:p.Glu56Asp
NM_001142605.1:c.63G>T	NP_001136077.1:p.Glu21Asp
NM_001258353.1:c.168G>T	NP_001245282.1:p.Glu56Asp
NM_001258354.1:c.168G>T	NP_001245283.1:p.Glu56Asp
NM_004247.3:c.168G>T	NP_004238.3:p.Glu56Asp
XR_934602.1:n.253G>T
XR_934602.3:n.249G>T
NM_004247.4:c.168G>T MANE Select	NP_004238.3:p.Glu56Asp
NM_001142605.2:c.63G>T	NP_001136077.1:p.Glu21Asp
NM_001258353.2:c.168G>T	NP_001245282.1:p.Glu56Asp
NM_001258354.2:c.168G>T	NP_001245283.1:p.Glu56Asp