Canonical Allele Identifier: CA399811706
Gene: EFTUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859904C>A , CM000679.2:g.44859904C>A GRCh38
NC_000017.10:g.42937272C>A , CM000679.1:g.42937272C>A GRCh37
NC_000017.9:g.40292798C>A NCBI36
NG_032674.1:g.44722G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1860+1G>T MANE Select ENSP00000392094.1:n.1860+1G>T
ENST00000402521.7:c.1755+1G>T ENSP00000385873.2:n.1755+1G>T
ENST00000426333.6:c.1860+1G>T ENSP00000392094.1:n.1860+1G>T
ENST00000586276.5:n.1522+1G>T
ENST00000590367.5:n.1588+1G>T
ENST00000591382.5:c.1860+1G>T ENSP00000467805.1:n.1860+1G>T
ENST00000592576.5:c.1830+1G>T ENSP00000465058.1:n.1830+1G>T
NM_001142605.1:c.1755+1G>T NP_001136077.1:n.1755+1G>T
NM_001258353.1:c.1860+1G>T NP_001245282.1:n.1860+1G>T
NM_001258354.1:c.1830+1G>T NP_001245283.1:n.1830+1G>T
NM_004247.3:c.1860+1G>T NP_004238.3:n.1860+1G>T
XR_934602.1:n.1945+1G>T
XR_934602.3:n.1941+1G>T
NM_004247.4:c.1860+1G>T MANE Select NP_004238.3:n.1860+1G>T
NM_001142605.2:c.1755+1G>T NP_001136077.1:n.1755+1G>T
NM_001258353.2:c.1860+1G>T NP_001245282.1:n.1860+1G>T
NM_001258354.2:c.1830+1G>T NP_001245283.1:n.1830+1G>T