Canonical Allele Identifier: CA2261586497

Gene: EFTUD2

Linked Data

• dbSNP Id: rs2050519562
• gnomAD v4: 17-44854875-T-TCCCTGCCTCCTTTCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854881_44854896dup , CM000679.2:g.44854881_44854896dup	GRCh38
NC_000017.10:g.42932249_42932264dup , CM000679.1:g.42932249_42932264dup	GRCh37
NC_000017.9:g.40287775_40287790dup	NCBI36
NG_032674.1:g.49735_49750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+27_2132+42dup MANE Select	ENSP00000392094.1:n.2132+27_2132+42dup
ENST00000402521.7:c.2027+27_2027+42dup	ENSP00000385873.2:n.2027+27_2027+42dup
ENST00000426333.6:c.2132+27_2132+42dup	ENSP00000392094.1:n.2132+27_2132+42dup
ENST00000586276.5:n.1794+27_1794+42dup
ENST00000590124.5:c.134+27_134+42dup	ENSP00000467249.1:n.134+27_134+42dup
ENST00000590367.5:n.1860+27_1860+42dup
ENST00000590977.5:n.740+27_740+42dup
ENST00000591382.5:c.2132+27_2132+42dup	ENSP00000467805.1:n.2132+27_2132+42dup
ENST00000592576.5:c.2102+27_2102+42dup	ENSP00000465058.1:n.2102+27_2102+42dup
NM_001142605.1:c.2027+27_2027+42dup	NP_001136077.1:n.2027+27_2027+42dup
NM_001258353.1:c.2132+27_2132+42dup	NP_001245282.1:n.2132+27_2132+42dup
NM_001258354.1:c.2102+27_2102+42dup	NP_001245283.1:n.2102+27_2102+42dup
NM_004247.3:c.2132+27_2132+42dup	NP_004238.3:n.2132+27_2132+42dup
XR_934602.1:n.2217+27_2217+42dup
XR_934602.3:n.2213+27_2213+42dup
NM_004247.4:c.2132+27_2132+42dup MANE Select	NP_004238.3:n.2132+27_2132+42dup
NM_001142605.2:c.2027+27_2027+42dup	NP_001136077.1:n.2027+27_2027+42dup
NM_001258353.2:c.2132+27_2132+42dup	NP_001245282.1:n.2132+27_2132+42dup
NM_001258354.2:c.2102+27_2102+42dup	NP_001245283.1:n.2102+27_2102+42dup