Canonical Allele Identifier: CA500313779

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945181G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867813G>C , CM000679.2:g.44867813G>C	GRCh38
NC_000017.10:g.42945181G>C , CM000679.1:g.42945181G>C	GRCh37
NC_000017.9:g.40300707G>C	NCBI36
NG_032674.1:g.36813C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1143C>G MANE Select	ENSP00000392094.1:p.Leu381=
ENST00000402521.7:c.1038C>G	ENSP00000385873.2:p.Leu346=
ENST00000426333.6:c.1143C>G	ENSP00000392094.1:p.Leu381=
ENST00000586654.5:n.198C>G
ENST00000590367.5:n.871C>G
ENST00000591382.5:c.1143C>G	ENSP00000467805.1:p.Leu381=
ENST00000591856.1:c.264C>G	ENSP00000468284.1:n.264C>G
ENST00000592576.5:c.1113C>G	ENSP00000465058.1:p.Leu371=
NM_001142605.1:c.1038C>G	NP_001136077.1:p.Leu346=
NM_001258353.1:c.1143C>G	NP_001245282.1:p.Leu381=
NM_001258354.1:c.1113C>G	NP_001245283.1:p.Leu371=
NM_004247.3:c.1143C>G	NP_004238.3:p.Leu381=
XR_934602.1:n.1228C>G
XR_934602.3:n.1224C>G
NM_004247.4:c.1143C>G MANE Select	NP_004238.3:p.Leu381=
NM_001142605.2:c.1038C>G	NP_001136077.1:p.Leu346=
NM_001258353.2:c.1143C>G	NP_001245282.1:p.Leu381=
NM_001258354.2:c.1113C>G	NP_001245283.1:p.Leu371=