Canonical Allele Identifier: CA2576293796

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854849_44854850insCA , CM000679.2:g.44854849_44854850insCA	GRCh38
NC_000017.10:g.42932217_42932218insCA , CM000679.1:g.42932217_42932218insCA	GRCh37
NC_000017.9:g.40287743_40287744insCA	NCBI36
NG_032674.1:g.49777_49778insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+69_2132+70insGT MANE Select	ENSP00000392094.1:n.2132+69_2132+70insGT
ENST00000402521.7:c.2027+69_2027+70insGT	ENSP00000385873.2:n.2027+69_2027+70insGT
ENST00000426333.6:c.2132+69_2132+70insGT	ENSP00000392094.1:n.2132+69_2132+70insGT
ENST00000586276.5:n.1794+69_1794+70insGT
ENST00000590124.5:c.134+69_134+70insGT	ENSP00000467249.1:n.134+69_134+70insGT
ENST00000590367.5:n.1860+69_1860+70insGT
ENST00000590977.5:n.740+69_740+70insGT
ENST00000591382.5:c.2132+69_2132+70insGT	ENSP00000467805.1:n.2132+69_2132+70insGT
ENST00000592576.5:c.2102+69_2102+70insGT	ENSP00000465058.1:n.2102+69_2102+70insGT
NM_001142605.1:c.2027+69_2027+70insGT	NP_001136077.1:n.2027+69_2027+70insGT
NM_001258353.1:c.2132+69_2132+70insGT	NP_001245282.1:n.2132+69_2132+70insGT
NM_001258354.1:c.2102+69_2102+70insGT	NP_001245283.1:n.2102+69_2102+70insGT
NM_004247.3:c.2132+69_2132+70insGT	NP_004238.3:n.2132+69_2132+70insGT
XR_934602.1:n.2217+69_2217+70insGT
XR_934602.3:n.2213+69_2213+70insGT
NM_004247.4:c.2132+69_2132+70insGT MANE Select	NP_004238.3:n.2132+69_2132+70insGT
NM_001142605.2:c.2027+69_2027+70insGT	NP_001136077.1:n.2027+69_2027+70insGT
NM_001258353.2:c.2132+69_2132+70insGT	NP_001245282.1:n.2132+69_2132+70insGT
NM_001258354.2:c.2102+69_2102+70insGT	NP_001245283.1:n.2102+69_2102+70insGT