Canonical Allele Identifier: CA500312580
Gene: EFTUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42937279G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859911G>T , CM000679.2:g.44859911G>T GRCh38
NC_000017.10:g.42937279G>T , CM000679.1:g.42937279G>T GRCh37
NC_000017.9:g.40292805G>T NCBI36
NG_032674.1:g.44715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.1854C>A MANE Select ENSP00000392094.1:p.Thr618=
ENST00000402521.7:c.1749C>A ENSP00000385873.2:p.Thr583=
ENST00000426333.6:c.1854C>A ENSP00000392094.1:p.Thr618=
ENST00000586276.5:n.1516C>A
ENST00000590367.5:n.1582C>A
ENST00000591382.5:c.1854C>A ENSP00000467805.1:p.Thr618=
ENST00000592576.5:c.1824C>A ENSP00000465058.1:p.Thr608=
NM_001142605.1:c.1749C>A NP_001136077.1:p.Thr583=
NM_001258353.1:c.1854C>A NP_001245282.1:p.Thr618=
NM_001258354.1:c.1824C>A NP_001245283.1:p.Thr608=
NM_004247.3:c.1854C>A NP_004238.3:p.Thr618=
XR_934602.1:n.1939C>A
XR_934602.3:n.1935C>A
NM_004247.4:c.1854C>A MANE Select NP_004238.3:p.Thr618=
NM_001142605.2:c.1749C>A NP_001136077.1:p.Thr583=
NM_001258353.2:c.1854C>A NP_001245282.1:p.Thr618=
NM_001258354.2:c.1824C>A NP_001245283.1:p.Thr608=