Canonical Allele Identifier: CA2261592359
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44867878C= , CM000679.2:g.44867878C= GRCh38
NC_000017.10:g.42945246C= , CM000679.1:g.42945246C= GRCh37
NC_000017.9:g.40300772C= NCBI36
NG_032674.1:g.36748G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.1078G= MANE Select ENSP00000392094.1:p.Ala360=
ENST00000402521.7:c.973G= ENSP00000385873.2:p.Ala325=
ENST00000426333.6:c.1078G= ENSP00000392094.1:p.Ala360=
ENST00000586654.5:n.133G=
ENST00000590367.5:n.806G=
ENST00000591382.5:c.1078G= ENSP00000467805.1:p.Ala360=
ENST00000591856.1:c.199G= ENSP00000468284.1:n.199G=
ENST00000592576.5:c.1048G= ENSP00000465058.1:p.Ala350=
NM_001142605.1:c.973G= NP_001136077.1:p.Ala325=
NM_001258353.1:c.1078G= NP_001245282.1:p.Ala360=
NM_001258354.1:c.1048G= NP_001245283.1:p.Ala350=
NM_004247.3:c.1078G= NP_004238.3:p.Ala360=
XR_934602.1:n.1163G=
XR_934602.3:n.1159G=
NM_004247.4:c.1078G= MANE Select NP_004238.3:p.Ala360=
NM_001142605.2:c.973G= NP_001136077.1:p.Ala325=
NM_001258353.2:c.1078G= NP_001245282.1:p.Ala360=
NM_001258354.2:c.1048G= NP_001245283.1:p.Ala350=