Canonical Allele Identifier: CA2261601095
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44886676A= , CM000679.2:g.44886676A= GRCh38
NC_000017.10:g.42964044A= , CM000679.1:g.42964044A= GRCh37
NC_000017.9:g.40319570A= NCBI36
NG_032674.1:g.17950T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.180T= MANE Select ENSP00000392094.1:p.His60=
ENST00000402521.7:c.75T= ENSP00000385873.2:p.His25=
ENST00000426333.6:c.180T= ENSP00000392094.1:p.His60=
ENST00000588374.1:c.82-1342T= ENSP00000467639.1:n.82-1342T=
ENST00000589211.1:n.571T=
ENST00000589825.5:n.261T=
ENST00000591382.5:c.180T= ENSP00000467805.1:p.His60=
ENST00000592408.5:n.391T=
ENST00000592576.5:c.180T= ENSP00000465058.1:p.His60=
ENST00000592701.2:c.180T= ENSP00000464908.1:p.His60=
ENST00000593072.5:c.180T= ENSP00000464882.1:p.His60=
NM_001142605.1:c.75T= NP_001136077.1:p.His25=
NM_001258353.1:c.180T= NP_001245282.1:p.His60=
NM_001258354.1:c.180T= NP_001245283.1:p.His60=
NM_004247.3:c.180T= NP_004238.3:p.His60=
XR_934602.1:n.265T=
XR_934602.3:n.261T=
NM_004247.4:c.180T= MANE Select NP_004238.3:p.His60=
NM_001142605.2:c.75T= NP_001136077.1:p.His25=
NM_001258353.2:c.180T= NP_001245282.1:p.His60=
NM_001258354.2:c.180T= NP_001245283.1:p.His60=