Canonical Allele Identifier: CA2261589115

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44860482G= , CM000679.2:g.44860482G=	GRCh38
NC_000017.10:g.42937850G= , CM000679.1:g.42937850G=	GRCh37
NC_000017.9:g.40293376G=	NCBI36
NG_032674.1:g.44144C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.1669C= MANE Select	NP_004238.3:p.Gln557=
ENST00000426333.7:c.1669C= MANE Select	ENSP00000392094.1:p.Gln557=
NM_001142605.1:c.1564C=	NP_001136077.1:p.Gln522=
NM_001142605.2:c.1564C=	NP_001136077.1:p.Gln522=
NM_001258353.1:c.1669C=	NP_001245282.1:p.Gln557=
NM_001258353.2:c.1669C=	NP_001245282.1:p.Gln557=
NM_001258354.1:c.1639C=	NP_001245283.1:p.Gln547=
NM_001258354.2:c.1639C=	NP_001245283.1:p.Gln547=
NM_004247.3:c.1669C=	NP_004238.3:p.Gln557=
ENST00000402521.7:c.1564C=	ENSP00000385873.2:p.Gln522=
ENST00000426333.6:c.1669C=	ENSP00000392094.1:p.Gln557=
ENST00000585616.5:n.547C=
ENST00000586276.5:n.945C=
ENST00000590367.5:n.1397C=
ENST00000591382.5:c.1669C=	ENSP00000467805.1:p.Gln557=
ENST00000592576.5:c.1639C=	ENSP00000465058.1:p.Gln547=
XR_934602.1:n.1754C=
XR_934602.3:n.1750C=