Canonical Allele Identifier: CA8607673
Gene: EFTUD2 HGNC NCBI

Linked Data

dbSNP Id: rs773704461

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859909G>C , CM000679.2:g.44859909G>C GRCh38
NC_000017.10:g.42937277G>C , CM000679.1:g.42937277G>C GRCh37
NC_000017.9:g.40292803G>C NCBI36
NG_032674.1:g.44717C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.1856C>G MANE Select ENSP00000392094.1:p.Thr619Ser
ENST00000402521.7:c.1751C>G ENSP00000385873.2:p.Thr584Ser
ENST00000426333.6:c.1856C>G ENSP00000392094.1:p.Thr619Ser
ENST00000586276.5:n.1518C>G
ENST00000590367.5:n.1584C>G
ENST00000591382.5:c.1856C>G ENSP00000467805.1:p.Thr619Ser
ENST00000592576.5:c.1826C>G ENSP00000465058.1:p.Thr609Ser
NM_001142605.1:c.1751C>G NP_001136077.1:p.Thr584Ser
NM_001258353.1:c.1856C>G NP_001245282.1:p.Thr619Ser
NM_001258354.1:c.1826C>G NP_001245283.1:p.Thr609Ser
NM_004247.3:c.1856C>G NP_004238.3:p.Thr619Ser
XR_934602.1:n.1941C>G
XR_934602.3:n.1937C>G
NM_004247.4:c.1856C>G MANE Select NP_004238.3:p.Thr619Ser
NM_001142605.2:c.1751C>G NP_001136077.1:p.Thr584Ser
NM_001258353.2:c.1856C>G NP_001245282.1:p.Thr619Ser
NM_001258354.2:c.1826C>G NP_001245283.1:p.Thr609Ser