Canonical Allele Identifier: CA500312299

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42932287T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854919T>G , CM000679.2:g.44854919T>G	GRCh38
NC_000017.10:g.42932287T>G , CM000679.1:g.42932287T>G	GRCh37
NC_000017.9:g.40287813T>G	NCBI36
NG_032674.1:g.49707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2131A>C MANE Select	ENSP00000392094.1:p.Arg711=
ENST00000402521.7:c.2026A>C	ENSP00000385873.2:p.Arg676=
ENST00000426333.6:c.2131A>C	ENSP00000392094.1:p.Arg711=
ENST00000586276.5:n.1793A>C
ENST00000590124.5:c.133A>C	ENSP00000467249.1:p.Arg45=
ENST00000590367.5:n.1859A>C
ENST00000590977.5:n.739A>C
ENST00000591382.5:c.2131A>C	ENSP00000467805.1:p.Arg711=
ENST00000592576.5:c.2101A>C	ENSP00000465058.1:p.Arg701=
NM_001142605.1:c.2026A>C	NP_001136077.1:p.Arg676=
NM_001258353.1:c.2131A>C	NP_001245282.1:p.Arg711=
NM_001258354.1:c.2101A>C	NP_001245283.1:p.Arg701=
NM_004247.3:c.2131A>C	NP_004238.3:p.Arg711=
XR_934602.1:n.2216A>C
XR_934602.3:n.2212A>C
NM_004247.4:c.2131A>C MANE Select	NP_004238.3:p.Arg711=
NM_001142605.2:c.2026A>C	NP_001136077.1:p.Arg676=
NM_001258353.2:c.2131A>C	NP_001245282.1:p.Arg711=
NM_001258354.2:c.2101A>C	NP_001245283.1:p.Arg701=