Canonical Allele Identifier: CA399811729
Gene: EFTUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859915A>G , CM000679.2:g.44859915A>G GRCh38
NC_000017.10:g.42937283A>G , CM000679.1:g.42937283A>G GRCh37
NC_000017.9:g.40292809A>G NCBI36
NG_032674.1:g.44711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1850T>C MANE Select ENSP00000392094.1:p.Leu617Pro
ENST00000402521.7:c.1745T>C ENSP00000385873.2:p.Leu582Pro
ENST00000426333.6:c.1850T>C ENSP00000392094.1:p.Leu617Pro
ENST00000586276.5:n.1512T>C
ENST00000590367.5:n.1578T>C
ENST00000591382.5:c.1850T>C ENSP00000467805.1:p.Leu617Pro
ENST00000592576.5:c.1820T>C ENSP00000465058.1:p.Leu607Pro
NM_001142605.1:c.1745T>C NP_001136077.1:p.Leu582Pro
NM_001258353.1:c.1850T>C NP_001245282.1:p.Leu617Pro
NM_001258354.1:c.1820T>C NP_001245283.1:p.Leu607Pro
NM_004247.3:c.1850T>C NP_004238.3:p.Leu617Pro
XR_934602.1:n.1935T>C
XR_934602.3:n.1931T>C
NM_004247.4:c.1850T>C MANE Select NP_004238.3:p.Leu617Pro
NM_001142605.2:c.1745T>C NP_001136077.1:p.Leu582Pro
NM_001258353.2:c.1850T>C NP_001245282.1:p.Leu617Pro
NM_001258354.2:c.1820T>C NP_001245283.1:p.Leu607Pro