Canonical Allele Identifier: CA2261588530

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859132A= , CM000679.2:g.44859132A=	GRCh38
NC_000017.10:g.42936500A= , CM000679.1:g.42936500A=	GRCh37
NC_000017.9:g.40292026A=	NCBI36
NG_032674.1:g.45494T=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.1910T= MANE Select	NP_004238.3:p.Leu637=
ENST00000426333.7:c.1910T= MANE Select	ENSP00000392094.1:p.Leu637=
NM_001142605.1:c.1805T=	NP_001136077.1:p.Leu602=
NM_001142605.2:c.1805T=	NP_001136077.1:p.Leu602=
NM_001258353.1:c.1910T=	NP_001245282.1:p.Leu637=
NM_001258353.2:c.1910T=	NP_001245282.1:p.Leu637=
NM_001258354.1:c.1880T=	NP_001245283.1:p.Leu627=
NM_001258354.2:c.1880T=	NP_001245283.1:p.Leu627=
NM_004247.3:c.1910T=	NP_004238.3:p.Leu637=
ENST00000402521.7:c.1805T=	ENSP00000385873.2:p.Leu602=
ENST00000426333.6:c.1910T=	ENSP00000392094.1:p.Leu637=
ENST00000586276.5:n.1572T=
ENST00000590367.5:n.1638T=
ENST00000590977.5:n.518T=
ENST00000591382.5:c.1910T=	ENSP00000467805.1:p.Leu637=
ENST00000592576.5:c.1880T=	ENSP00000465058.1:p.Leu627=
XR_934602.1:n.1995T=
XR_934602.3:n.1991T=