Canonical Allele Identifier: CA399815819

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945179G>T (hg19) ; chr17:g.44867811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867811G>T , CM000679.2:g.44867811G>T	GRCh38
NC_000017.10:g.42945179G>T , CM000679.1:g.42945179G>T	GRCh37
NC_000017.9:g.40300705G>T	NCBI36
NG_032674.1:g.36815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1145C>A MANE Select	ENSP00000392094.1:p.Ala382Asp
ENST00000402521.7:c.1040C>A	ENSP00000385873.2:p.Ala347Asp
ENST00000426333.6:c.1145C>A	ENSP00000392094.1:p.Ala382Asp
ENST00000586654.5:n.200C>A
ENST00000590367.5:n.873C>A
ENST00000591382.5:c.1145C>A	ENSP00000467805.1:p.Ala382Asp
ENST00000591856.1:c.266C>A	ENSP00000468284.1:n.266C>A
ENST00000592576.5:c.1115C>A	ENSP00000465058.1:p.Ala372Asp
NM_001142605.1:c.1040C>A	NP_001136077.1:p.Ala347Asp
NM_001258353.1:c.1145C>A	NP_001245282.1:p.Ala382Asp
NM_001258354.1:c.1115C>A	NP_001245283.1:p.Ala372Asp
NM_004247.3:c.1145C>A	NP_004238.3:p.Ala382Asp
XR_934602.1:n.1230C>A
XR_934602.3:n.1226C>A
NM_004247.4:c.1145C>A MANE Select	NP_004238.3:p.Ala382Asp
NM_001142605.2:c.1040C>A	NP_001136077.1:p.Ala347Asp
NM_001258353.2:c.1145C>A	NP_001245282.1:p.Ala382Asp
NM_001258354.2:c.1115C>A	NP_001245283.1:p.Ala372Asp