Canonical Allele Identifier: CA399826551
Gene: EFTUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44886686A>G , CM000679.2:g.44886686A>G GRCh38
NC_000017.10:g.42964054A>G , CM000679.1:g.42964054A>G GRCh37
NC_000017.9:g.40319580A>G NCBI36
NG_032674.1:g.17940T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.170T>C MANE Select ENSP00000392094.1:p.Val57Ala
ENST00000402521.7:c.65T>C ENSP00000385873.2:p.Val22Ala
ENST00000426333.6:c.170T>C ENSP00000392094.1:p.Val57Ala
ENST00000588374.1:c.82-1352T>C ENSP00000467639.1:n.82-1352T>C
ENST00000589211.1:n.561T>C
ENST00000589825.5:n.251T>C
ENST00000591382.5:c.170T>C ENSP00000467805.1:p.Val57Ala
ENST00000592408.5:n.381T>C
ENST00000592576.5:c.170T>C ENSP00000465058.1:p.Val57Ala
ENST00000592701.2:c.170T>C ENSP00000464908.1:p.Val57Ala
ENST00000593072.5:c.170T>C ENSP00000464882.1:p.Val57Ala
NM_001142605.1:c.65T>C NP_001136077.1:p.Val22Ala
NM_001258353.1:c.170T>C NP_001245282.1:p.Val57Ala
NM_001258354.1:c.170T>C NP_001245283.1:p.Val57Ala
NM_004247.3:c.170T>C NP_004238.3:p.Val57Ala
XR_934602.1:n.255T>C
XR_934602.3:n.251T>C
NM_004247.4:c.170T>C MANE Select NP_004238.3:p.Val57Ala
NM_001142605.2:c.65T>C NP_001136077.1:p.Val22Ala
NM_001258353.2:c.170T>C NP_001245282.1:p.Val57Ala
NM_001258354.2:c.170T>C NP_001245283.1:p.Val57Ala