Canonical Allele Identifier: CA2261586525

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854920G= , CM000679.2:g.44854920G=	GRCh38
NC_000017.10:g.42932288G= , CM000679.1:g.42932288G=	GRCh37
NC_000017.9:g.40287814G=	NCBI36
NG_032674.1:g.49706C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2130C= MANE Select	ENSP00000392094.1:p.Asn710=
ENST00000402521.7:c.2025C=	ENSP00000385873.2:p.Asn675=
ENST00000426333.6:c.2130C=	ENSP00000392094.1:p.Asn710=
ENST00000586276.5:n.1792C=
ENST00000590124.5:c.132C=	ENSP00000467249.1:p.Asn44=
ENST00000590367.5:n.1858C=
ENST00000590977.5:n.738C=
ENST00000591382.5:c.2130C=	ENSP00000467805.1:p.Asn710=
ENST00000592576.5:c.2100C=	ENSP00000465058.1:p.Asn700=
NM_001142605.1:c.2025C=	NP_001136077.1:p.Asn675=
NM_001258353.1:c.2130C=	NP_001245282.1:p.Asn710=
NM_001258354.1:c.2100C=	NP_001245283.1:p.Asn700=
NM_004247.3:c.2130C=	NP_004238.3:p.Asn710=
XR_934602.1:n.2215C=
XR_934602.3:n.2211C=
NM_004247.4:c.2130C= MANE Select	NP_004238.3:p.Asn710=
NM_001142605.2:c.2025C=	NP_001136077.1:p.Asn675=
NM_001258353.2:c.2130C=	NP_001245282.1:p.Asn710=
NM_001258354.2:c.2100C=	NP_001245283.1:p.Asn700=