Canonical Allele Identifier: CA399826432

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964018G>A (hg19) ; chr17:g.44886650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886650G>A , CM000679.2:g.44886650G>A	GRCh38
NC_000017.10:g.42964018G>A , CM000679.1:g.42964018G>A	GRCh37
NC_000017.9:g.40319544G>A	NCBI36
NG_032674.1:g.17976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.206C>T MANE Select	ENSP00000392094.1:p.Ala69Val
ENST00000402521.7:c.101C>T	ENSP00000385873.2:p.Ala34Val
ENST00000426333.6:c.206C>T	ENSP00000392094.1:p.Ala69Val
ENST00000588374.1:c.82-1316C>T	ENSP00000467639.1:n.82-1316C>T
ENST00000589825.5:n.287C>T
ENST00000591382.5:c.206C>T	ENSP00000467805.1:p.Ala69Val
ENST00000592408.5:n.417C>T
ENST00000592576.5:c.206C>T	ENSP00000465058.1:p.Ala69Val
ENST00000592701.2:c.206C>T	ENSP00000464908.1:p.Ala69Val
ENST00000593072.5:c.206C>T	ENSP00000464882.1:p.Ala69Val
NM_001142605.1:c.101C>T	NP_001136077.1:p.Ala34Val
NM_001258353.1:c.206C>T	NP_001245282.1:p.Ala69Val
NM_001258354.1:c.206C>T	NP_001245283.1:p.Ala69Val
NM_004247.3:c.206C>T	NP_004238.3:p.Ala69Val
XR_934602.1:n.291C>T
XR_934602.3:n.287C>T
NM_004247.4:c.206C>T MANE Select	NP_004238.3:p.Ala69Val
NM_001142605.2:c.101C>T	NP_001136077.1:p.Ala34Val
NM_001258353.2:c.206C>T	NP_001245282.1:p.Ala69Val
NM_001258354.2:c.206C>T	NP_001245283.1:p.Ala69Val