Canonical Allele Identifier: CA2261586492

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854871G= , CM000679.2:g.44854871G=	GRCh38
NC_000017.10:g.42932239G= , CM000679.1:g.42932239G=	GRCh37
NC_000017.9:g.40287765G=	NCBI36
NG_032674.1:g.49755C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+47C= MANE Select	ENSP00000392094.1:n.2132+47C=
ENST00000402521.7:c.2027+47C=	ENSP00000385873.2:n.2027+47C=
ENST00000426333.6:c.2132+47C=	ENSP00000392094.1:n.2132+47C=
ENST00000586276.5:n.1794+47C=
ENST00000590124.5:c.134+47C=	ENSP00000467249.1:n.134+47C=
ENST00000590367.5:n.1860+47C=
ENST00000590977.5:n.740+47C=
ENST00000591382.5:c.2132+47C=	ENSP00000467805.1:n.2132+47C=
ENST00000592576.5:c.2102+47C=	ENSP00000465058.1:n.2102+47C=
NM_001142605.1:c.2027+47C=	NP_001136077.1:n.2027+47C=
NM_001258353.1:c.2132+47C=	NP_001245282.1:n.2132+47C=
NM_001258354.1:c.2102+47C=	NP_001245283.1:n.2102+47C=
NM_004247.3:c.2132+47C=	NP_004238.3:n.2132+47C=
XR_934602.1:n.2217+47C=
XR_934602.3:n.2213+47C=
NM_004247.4:c.2132+47C= MANE Select	NP_004238.3:n.2132+47C=
NM_001142605.2:c.2027+47C=	NP_001136077.1:n.2027+47C=
NM_001258353.2:c.2132+47C=	NP_001245282.1:n.2132+47C=
NM_001258354.2:c.2102+47C=	NP_001245283.1:n.2102+47C=