Canonical Allele Identifier: CA2261592361

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867883T= , CM000679.2:g.44867883T=	GRCh38
NC_000017.10:g.42945251T= , CM000679.1:g.42945251T=	GRCh37
NC_000017.9:g.40300777T=	NCBI36
NG_032674.1:g.36743A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1073A= MANE Select	ENSP00000392094.1:p.Lys358=
ENST00000402521.7:c.968A=	ENSP00000385873.2:p.Lys323=
ENST00000426333.6:c.1073A=	ENSP00000392094.1:p.Lys358=
ENST00000586654.5:n.128A=
ENST00000590367.5:n.801A=
ENST00000591382.5:c.1073A=	ENSP00000467805.1:p.Lys358=
ENST00000591856.1:c.194A=	ENSP00000468284.1:n.194A=
ENST00000592576.5:c.1043A=	ENSP00000465058.1:p.Lys348=
NM_001142605.1:c.968A=	NP_001136077.1:p.Lys323=
NM_001258353.1:c.1073A=	NP_001245282.1:p.Lys358=
NM_001258354.1:c.1043A=	NP_001245283.1:p.Lys348=
NM_004247.3:c.1073A=	NP_004238.3:p.Lys358=
XR_934602.1:n.1158A=
XR_934602.3:n.1154A=
NM_004247.4:c.1073A= MANE Select	NP_004238.3:p.Lys358=
NM_001142605.2:c.968A=	NP_001136077.1:p.Lys323=
NM_001258353.2:c.1073A=	NP_001245282.1:p.Lys358=
NM_001258354.2:c.1043A=	NP_001245283.1:p.Lys348=