Canonical Allele Identifier: CA399826532

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964048A>T (hg19) ; chr17:g.44886680A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886680A>T , CM000679.2:g.44886680A>T	GRCh38
NC_000017.10:g.42964048A>T , CM000679.1:g.42964048A>T	GRCh37
NC_000017.9:g.40319574A>T	NCBI36
NG_032674.1:g.17946T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.176T>A MANE Select	ENSP00000392094.1:p.Leu59Gln
ENST00000402521.7:c.71T>A	ENSP00000385873.2:p.Leu24Gln
ENST00000426333.6:c.176T>A	ENSP00000392094.1:p.Leu59Gln
ENST00000588374.1:c.82-1346T>A	ENSP00000467639.1:n.82-1346T>A
ENST00000589211.1:n.567T>A
ENST00000589825.5:n.257T>A
ENST00000591382.5:c.176T>A	ENSP00000467805.1:p.Leu59Gln
ENST00000592408.5:n.387T>A
ENST00000592576.5:c.176T>A	ENSP00000465058.1:p.Leu59Gln
ENST00000592701.2:c.176T>A	ENSP00000464908.1:p.Leu59Gln
ENST00000593072.5:c.176T>A	ENSP00000464882.1:p.Leu59Gln
NM_001142605.1:c.71T>A	NP_001136077.1:p.Leu24Gln
NM_001258353.1:c.176T>A	NP_001245282.1:p.Leu59Gln
NM_001258354.1:c.176T>A	NP_001245283.1:p.Leu59Gln
NM_004247.3:c.176T>A	NP_004238.3:p.Leu59Gln
XR_934602.1:n.261T>A
XR_934602.3:n.257T>A
NM_004247.4:c.176T>A MANE Select	NP_004238.3:p.Leu59Gln
NM_001142605.2:c.71T>A	NP_001136077.1:p.Leu24Gln
NM_001258353.2:c.176T>A	NP_001245282.1:p.Leu59Gln
NM_001258354.2:c.176T>A	NP_001245283.1:p.Leu59Gln