Canonical Allele Identifier: CA500312585

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42937282G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859914G>C , CM000679.2:g.44859914G>C	GRCh38
NC_000017.10:g.42937282G>C , CM000679.1:g.42937282G>C	GRCh37
NC_000017.9:g.40292808G>C	NCBI36
NG_032674.1:g.44712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1851C>G MANE Select	ENSP00000392094.1:p.Leu617=
ENST00000402521.7:c.1746C>G	ENSP00000385873.2:p.Leu582=
ENST00000426333.6:c.1851C>G	ENSP00000392094.1:p.Leu617=
ENST00000586276.5:n.1513C>G
ENST00000590367.5:n.1579C>G
ENST00000591382.5:c.1851C>G	ENSP00000467805.1:p.Leu617=
ENST00000592576.5:c.1821C>G	ENSP00000465058.1:p.Leu607=
NM_001142605.1:c.1746C>G	NP_001136077.1:p.Leu582=
NM_001258353.1:c.1851C>G	NP_001245282.1:p.Leu617=
NM_001258354.1:c.1821C>G	NP_001245283.1:p.Leu607=
NM_004247.3:c.1851C>G	NP_004238.3:p.Leu617=
XR_934602.1:n.1936C>G
XR_934602.3:n.1932C>G
NM_004247.4:c.1851C>G MANE Select	NP_004238.3:p.Leu617=
NM_001142605.2:c.1746C>G	NP_001136077.1:p.Leu582=
NM_001258353.2:c.1851C>G	NP_001245282.1:p.Leu617=
NM_001258354.2:c.1821C>G	NP_001245283.1:p.Leu607=