Canonical Allele Identifier: CA2261596074

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44876019G= , CM000679.2:g.44876019G=	GRCh38
NC_000017.10:g.42953387G= , CM000679.1:g.42953387G=	GRCh37
NC_000017.9:g.40308913G=	NCBI36
NG_032674.1:g.28607C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.784C= MANE Select	NP_004238.3:p.Arg262=
ENST00000426333.7:c.784C= MANE Select	ENSP00000392094.1:p.Arg262=
NM_001142605.1:c.679C=	NP_001136077.1:p.Arg227=
NM_001142605.2:c.679C=	NP_001136077.1:p.Arg227=
NM_001258353.1:c.784C=	NP_001245282.1:p.Arg262=
NM_001258353.2:c.784C=	NP_001245282.1:p.Arg262=
NM_001258354.1:c.754C=	NP_001245283.1:p.Arg252=
NM_001258354.2:c.754C=	NP_001245283.1:p.Arg252=
NM_004247.3:c.784C=	NP_004238.3:p.Arg262=
ENST00000402521.7:c.679C=	ENSP00000385873.2:p.Arg227=
ENST00000426333.6:c.784C=	ENSP00000392094.1:p.Arg262=
ENST00000587957.1:n.117C=
ENST00000591382.5:c.784C=	ENSP00000467805.1:p.Arg262=
ENST00000592576.5:c.754C=	ENSP00000465058.1:p.Arg252=
ENST00000593200.5:n.405C=
XR_934602.1:n.869C=
XR_934602.3:n.865C=