Canonical Allele Identifier: CA500318763

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964050C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886682C>A , CM000679.2:g.44886682C>A	GRCh38
NC_000017.10:g.42964050C>A , CM000679.1:g.42964050C>A	GRCh37
NC_000017.9:g.40319576C>A	NCBI36
NG_032674.1:g.17944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.174G>T MANE Select	ENSP00000392094.1:p.Val58=
ENST00000402521.7:c.69G>T	ENSP00000385873.2:p.Val23=
ENST00000426333.6:c.174G>T	ENSP00000392094.1:p.Val58=
ENST00000588374.1:c.82-1348G>T	ENSP00000467639.1:n.82-1348G>T
ENST00000589211.1:n.565G>T
ENST00000589825.5:n.255G>T
ENST00000591382.5:c.174G>T	ENSP00000467805.1:p.Val58=
ENST00000592408.5:n.385G>T
ENST00000592576.5:c.174G>T	ENSP00000465058.1:p.Val58=
ENST00000592701.2:c.174G>T	ENSP00000464908.1:p.Val58=
ENST00000593072.5:c.174G>T	ENSP00000464882.1:p.Val58=
NM_001142605.1:c.69G>T	NP_001136077.1:p.Val23=
NM_001258353.1:c.174G>T	NP_001245282.1:p.Val58=
NM_001258354.1:c.174G>T	NP_001245283.1:p.Val58=
NM_004247.3:c.174G>T	NP_004238.3:p.Val58=
XR_934602.1:n.259G>T
XR_934602.3:n.255G>T
NM_004247.4:c.174G>T MANE Select	NP_004238.3:p.Val58=
NM_001142605.2:c.69G>T	NP_001136077.1:p.Val23=
NM_001258353.2:c.174G>T	NP_001245282.1:p.Val58=
NM_001258354.2:c.174G>T	NP_001245283.1:p.Val58=