Canonical Allele Identifier: CA399843999

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44854987-A-G
• MyVariant Identifiers: chr17:g.42932355A>G (hg19) ; chr17:g.44854987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854987A>G , CM000679.2:g.44854987A>G	GRCh38
NC_000017.10:g.42932355A>G , CM000679.1:g.42932355A>G	GRCh37
NC_000017.9:g.40287881A>G	NCBI36
NG_032674.1:g.49639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2063T>C MANE Select	ENSP00000392094.1:p.Ile688Thr
ENST00000402521.7:c.1958T>C	ENSP00000385873.2:p.Ile653Thr
ENST00000426333.6:c.2063T>C	ENSP00000392094.1:p.Ile688Thr
ENST00000586276.5:n.1725T>C
ENST00000588340.1:n.583T>C
ENST00000590124.5:c.65T>C	ENSP00000467249.1:p.Ile22Thr
ENST00000590367.5:n.1791T>C
ENST00000590977.5:n.671T>C
ENST00000591382.5:c.2063T>C	ENSP00000467805.1:p.Ile688Thr
ENST00000592576.5:c.2033T>C	ENSP00000465058.1:p.Ile678Thr
NM_001142605.1:c.1958T>C	NP_001136077.1:p.Ile653Thr
NM_001258353.1:c.2063T>C	NP_001245282.1:p.Ile688Thr
NM_001258354.1:c.2033T>C	NP_001245283.1:p.Ile678Thr
NM_004247.3:c.2063T>C	NP_004238.3:p.Ile688Thr
XR_934602.1:n.2148T>C
XR_934602.3:n.2144T>C
NM_004247.4:c.2063T>C MANE Select	NP_004238.3:p.Ile688Thr
NM_001142605.2:c.1958T>C	NP_001136077.1:p.Ile653Thr
NM_001258353.2:c.2063T>C	NP_001245282.1:p.Ile688Thr
NM_001258354.2:c.2033T>C	NP_001245283.1:p.Ile678Thr