Canonical Allele Identifier: CA399816124

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945252T>C (hg19) ; chr17:g.44867884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867884T>C , CM000679.2:g.44867884T>C	GRCh38
NC_000017.10:g.42945252T>C , CM000679.1:g.42945252T>C	GRCh37
NC_000017.9:g.40300778T>C	NCBI36
NG_032674.1:g.36742A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1072A>G MANE Select	ENSP00000392094.1:p.Lys358Glu
ENST00000402521.7:c.967A>G	ENSP00000385873.2:p.Lys323Glu
ENST00000426333.6:c.1072A>G	ENSP00000392094.1:p.Lys358Glu
ENST00000586654.5:n.127A>G
ENST00000590367.5:n.800A>G
ENST00000591382.5:c.1072A>G	ENSP00000467805.1:p.Lys358Glu
ENST00000591856.1:c.193A>G	ENSP00000468284.1:n.193A>G
ENST00000592576.5:c.1042A>G	ENSP00000465058.1:p.Lys348Glu
NM_001142605.1:c.967A>G	NP_001136077.1:p.Lys323Glu
NM_001258353.1:c.1072A>G	NP_001245282.1:p.Lys358Glu
NM_001258354.1:c.1042A>G	NP_001245283.1:p.Lys348Glu
NM_004247.3:c.1072A>G	NP_004238.3:p.Lys358Glu
XR_934602.1:n.1157A>G
XR_934602.3:n.1153A>G
NM_004247.4:c.1072A>G MANE Select	NP_004238.3:p.Lys358Glu
NM_001142605.2:c.967A>G	NP_001136077.1:p.Lys323Glu
NM_001258353.2:c.1072A>G	NP_001245282.1:p.Lys358Glu
NM_001258354.2:c.1042A>G	NP_001245283.1:p.Lys348Glu