Canonical Allele Identifier: CA16607652
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44854268C>A , CM000679.2:g.44854268C>A GRCh38
NC_000017.10:g.42931636C>A , CM000679.1:g.42931636C>A GRCh37
NC_000017.9:g.40287162C>A NCBI36
NG_032674.1:g.50358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.2347+1G>T MANE Select ENSP00000392094.1:n.2347+1G>T
ENST00000402521.7:c.2242+1G>T ENSP00000385873.2:n.2242+1G>T
ENST00000426333.6:c.2347+1G>T ENSP00000392094.1:n.2347+1G>T
ENST00000586276.5:n.2010G>T
ENST00000589769.1:c.195+1G>T
ENST00000590124.5:c.349+1G>T ENSP00000467249.1:n.349+1G>T
ENST00000590367.5:n.2076G>T
ENST00000590977.5:n.956G>T
ENST00000591382.5:c.2347+1G>T ENSP00000467805.1:n.2347+1G>T
ENST00000592576.5:c.2317+1G>T ENSP00000465058.1:n.2317+1G>T
NM_001142605.1:c.2242+1G>T NP_001136077.1:n.2242+1G>T
NM_001258353.1:c.2347+1G>T NP_001245282.1:n.2347+1G>T
NM_001258354.1:c.2317+1G>T NP_001245283.1:n.2317+1G>T
NM_004247.3:c.2347+1G>T NP_004238.3:n.2347+1G>T
XR_934602.1:n.2432+1G>T
XR_934602.3:n.2428+1G>T
NM_004247.4:c.2347+1G>T MANE Select NP_004238.3:n.2347+1G>T
NM_001142605.2:c.2242+1G>T NP_001136077.1:n.2242+1G>T
NM_001258353.2:c.2347+1G>T NP_001245282.1:n.2347+1G>T
NM_001258354.2:c.2317+1G>T NP_001245283.1:n.2317+1G>T