Canonical Allele Identifier: CA2261596083

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44876039A= , CM000679.2:g.44876039A=	GRCh38
NC_000017.10:g.42953407A= , CM000679.1:g.42953407A=	GRCh37
NC_000017.9:g.40308933A=	NCBI36
NG_032674.1:g.28587T=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.764T= MANE Select	NP_004238.3:p.Val255=
ENST00000426333.7:c.764T= MANE Select	ENSP00000392094.1:p.Val255=
NM_001142605.1:c.659T=	NP_001136077.1:p.Val220=
NM_001142605.2:c.659T=	NP_001136077.1:p.Val220=
NM_001258353.1:c.764T=	NP_001245282.1:p.Val255=
NM_001258353.2:c.764T=	NP_001245282.1:p.Val255=
NM_001258354.1:c.734T=	NP_001245283.1:p.Val245=
NM_001258354.2:c.734T=	NP_001245283.1:p.Val245=
NM_004247.3:c.764T=	NP_004238.3:p.Val255=
ENST00000402521.7:c.659T=	ENSP00000385873.2:p.Val220=
ENST00000426333.6:c.764T=	ENSP00000392094.1:p.Val255=
ENST00000587957.1:n.97T=
ENST00000591382.5:c.764T=	ENSP00000467805.1:p.Val255=
ENST00000592576.5:c.734T=	ENSP00000465058.1:p.Val245=
ENST00000593200.5:n.385T=
XR_934602.1:n.849T=
XR_934602.3:n.845T=