Canonical Allele Identifier: CA399811713
Gene: EFTUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859906T>G , CM000679.2:g.44859906T>G GRCh38
NC_000017.10:g.42937274T>G , CM000679.1:g.42937274T>G GRCh37
NC_000017.9:g.40292800T>G NCBI36
NG_032674.1:g.44720A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.1859A>C MANE Select ENSP00000392094.1:p.Lys620Thr
ENST00000402521.7:c.1754A>C ENSP00000385873.2:p.Lys585Thr
ENST00000426333.6:c.1859A>C ENSP00000392094.1:p.Lys620Thr
ENST00000586276.5:n.1521A>C
ENST00000590367.5:n.1587A>C
ENST00000591382.5:c.1859A>C ENSP00000467805.1:p.Lys620Thr
ENST00000592576.5:c.1829A>C ENSP00000465058.1:p.Lys610Thr
NM_001142605.1:c.1754A>C NP_001136077.1:p.Lys585Thr
NM_001258353.1:c.1859A>C NP_001245282.1:p.Lys620Thr
NM_001258354.1:c.1829A>C NP_001245283.1:p.Lys610Thr
NM_004247.3:c.1859A>C NP_004238.3:p.Lys620Thr
XR_934602.1:n.1944A>C
XR_934602.3:n.1940A>C
NM_004247.4:c.1859A>C MANE Select NP_004238.3:p.Lys620Thr
NM_001142605.2:c.1754A>C NP_001136077.1:p.Lys585Thr
NM_001258353.2:c.1859A>C NP_001245282.1:p.Lys620Thr
NM_001258354.2:c.1829A>C NP_001245283.1:p.Lys610Thr