Canonical Allele Identifier: CA2261601016

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886628C= , CM000679.2:g.44886628C=	GRCh38
NC_000017.10:g.42963996C= , CM000679.1:g.42963996C=	GRCh37
NC_000017.9:g.40319522C=	NCBI36
NG_032674.1:g.17998G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.228G= MANE Select	ENSP00000392094.1:p.Glu76=
ENST00000402521.7:c.123G=	ENSP00000385873.2:p.Glu41=
ENST00000426333.6:c.228G=	ENSP00000392094.1:p.Glu76=
ENST00000588374.1:c.82-1294G=	ENSP00000467639.1:n.82-1294G=
ENST00000589825.5:n.309G=
ENST00000591382.5:c.228G=	ENSP00000467805.1:p.Glu76=
ENST00000592408.5:n.439G=
ENST00000592576.5:c.228G=	ENSP00000465058.1:p.Glu76=
ENST00000592701.2:c.228G=	ENSP00000464908.1:p.Glu76=
ENST00000593072.5:c.228G=	ENSP00000464882.1:p.Glu76=
NM_001142605.1:c.123G=	NP_001136077.1:p.Glu41=
NM_001258353.1:c.228G=	NP_001245282.1:p.Glu76=
NM_001258354.1:c.228G=	NP_001245283.1:p.Glu76=
NM_004247.3:c.228G=	NP_004238.3:p.Glu76=
XR_934602.1:n.313G=
XR_934602.3:n.309G=
NM_004247.4:c.228G= MANE Select	NP_004238.3:p.Glu76=
NM_001142605.2:c.123G=	NP_001136077.1:p.Glu41=
NM_001258353.2:c.228G=	NP_001245282.1:p.Glu76=
NM_001258354.2:c.228G=	NP_001245283.1:p.Glu76=