Canonical Allele Identifier: CA2261586495
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44854874A= , CM000679.2:g.44854874A= GRCh38
NC_000017.10:g.42932242A= , CM000679.1:g.42932242A= GRCh37
NC_000017.9:g.40287768A= NCBI36
NG_032674.1:g.49752T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.2132+44T= MANE Select ENSP00000392094.1:n.2132+44T=
ENST00000402521.7:c.2027+44T= ENSP00000385873.2:n.2027+44T=
ENST00000426333.6:c.2132+44T= ENSP00000392094.1:n.2132+44T=
ENST00000586276.5:n.1794+44T=
ENST00000590124.5:c.134+44T= ENSP00000467249.1:n.134+44T=
ENST00000590367.5:n.1860+44T=
ENST00000590977.5:n.740+44T=
ENST00000591382.5:c.2132+44T= ENSP00000467805.1:n.2132+44T=
ENST00000592576.5:c.2102+44T= ENSP00000465058.1:n.2102+44T=
NM_001142605.1:c.2027+44T= NP_001136077.1:n.2027+44T=
NM_001258353.1:c.2132+44T= NP_001245282.1:n.2132+44T=
NM_001258354.1:c.2102+44T= NP_001245283.1:n.2102+44T=
NM_004247.3:c.2132+44T= NP_004238.3:n.2132+44T=
XR_934602.1:n.2217+44T=
XR_934602.3:n.2213+44T=
NM_004247.4:c.2132+44T= MANE Select NP_004238.3:n.2132+44T=
NM_001142605.2:c.2027+44T= NP_001136077.1:n.2027+44T=
NM_001258353.2:c.2132+44T= NP_001245282.1:n.2132+44T=
NM_001258354.2:c.2102+44T= NP_001245283.1:n.2102+44T=