Canonical Allele Identifier: CA2261590157

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44862778G= , CM000679.2:g.44862778G=	GRCh38
NC_000017.10:g.42940146G= , CM000679.1:g.42940146G=	GRCh37
NC_000017.9:g.40295672G=	NCBI36
NG_032674.1:g.41848C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.1542C= MANE Select	NP_004238.3:p.Tyr514=
ENST00000426333.7:c.1542C= MANE Select	ENSP00000392094.1:p.Tyr514=
NM_001142605.1:c.1437C=	NP_001136077.1:p.Tyr479=
NM_001142605.2:c.1437C=	NP_001136077.1:p.Tyr479=
NM_001258353.1:c.1542C=	NP_001245282.1:p.Tyr514=
NM_001258353.2:c.1542C=	NP_001245282.1:p.Tyr514=
NM_001258354.1:c.1512C=	NP_001245283.1:p.Tyr504=
NM_001258354.2:c.1512C=	NP_001245283.1:p.Tyr504=
NM_004247.3:c.1542C=	NP_004238.3:p.Tyr514=
ENST00000402521.7:c.1437C=	ENSP00000385873.2:p.Tyr479=
ENST00000426333.6:c.1542C=	ENSP00000392094.1:p.Tyr514=
ENST00000585616.5:n.420C=
ENST00000585794.5:n.560C=
ENST00000586276.5:n.818C=
ENST00000587914.1:n.537C=
ENST00000590367.5:n.1270C=
ENST00000591382.5:c.1542C=	ENSP00000467805.1:p.Tyr514=
ENST00000592576.5:c.1512C=	ENSP00000465058.1:p.Tyr504=
XR_934602.1:n.1627C=
XR_934602.3:n.1623C=