Canonical Allele Identifier: CA2261586494
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44854873C= , CM000679.2:g.44854873C= GRCh38
NC_000017.10:g.42932241C= , CM000679.1:g.42932241C= GRCh37
NC_000017.9:g.40287767C= NCBI36
NG_032674.1:g.49753G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.2132+45G= MANE Select ENSP00000392094.1:n.2132+45G=
ENST00000402521.7:c.2027+45G= ENSP00000385873.2:n.2027+45G=
ENST00000426333.6:c.2132+45G= ENSP00000392094.1:n.2132+45G=
ENST00000586276.5:n.1794+45G=
ENST00000590124.5:c.134+45G= ENSP00000467249.1:n.134+45G=
ENST00000590367.5:n.1860+45G=
ENST00000590977.5:n.740+45G=
ENST00000591382.5:c.2132+45G= ENSP00000467805.1:n.2132+45G=
ENST00000592576.5:c.2102+45G= ENSP00000465058.1:n.2102+45G=
NM_001142605.1:c.2027+45G= NP_001136077.1:n.2027+45G=
NM_001258353.1:c.2132+45G= NP_001245282.1:n.2132+45G=
NM_001258354.1:c.2102+45G= NP_001245283.1:n.2102+45G=
NM_004247.3:c.2132+45G= NP_004238.3:n.2132+45G=
XR_934602.1:n.2217+45G=
XR_934602.3:n.2213+45G=
NM_004247.4:c.2132+45G= MANE Select NP_004238.3:n.2132+45G=
NM_001142605.2:c.2027+45G= NP_001136077.1:n.2027+45G=
NM_001258353.2:c.2132+45G= NP_001245282.1:n.2132+45G=
NM_001258354.2:c.2102+45G= NP_001245283.1:n.2102+45G=