Canonical Allele Identifier: CA399843611

Gene: EFTUD2

Linked Data

• COSMIC: COSM6402656
• MyVariant Identifiers: chr17:g.42932301T>C (hg19) ; chr17:g.44854933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854933T>C , CM000679.2:g.44854933T>C	GRCh38
NC_000017.10:g.42932301T>C , CM000679.1:g.42932301T>C	GRCh37
NC_000017.9:g.40287827T>C	NCBI36
NG_032674.1:g.49693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2117A>G MANE Select	ENSP00000392094.1:p.Gln706Arg
ENST00000402521.7:c.2012A>G	ENSP00000385873.2:p.Gln671Arg
ENST00000426333.6:c.2117A>G	ENSP00000392094.1:p.Gln706Arg
ENST00000586276.5:n.1779A>G
ENST00000590124.5:c.119A>G	ENSP00000467249.1:p.Gln40Arg
ENST00000590367.5:n.1845A>G
ENST00000590977.5:n.725A>G
ENST00000591382.5:c.2117A>G	ENSP00000467805.1:p.Gln706Arg
ENST00000592576.5:c.2087A>G	ENSP00000465058.1:p.Gln696Arg
NM_001142605.1:c.2012A>G	NP_001136077.1:p.Gln671Arg
NM_001258353.1:c.2117A>G	NP_001245282.1:p.Gln706Arg
NM_001258354.1:c.2087A>G	NP_001245283.1:p.Gln696Arg
NM_004247.3:c.2117A>G	NP_004238.3:p.Gln706Arg
XR_934602.1:n.2202A>G
XR_934602.3:n.2198A>G
NM_004247.4:c.2117A>G MANE Select	NP_004238.3:p.Gln706Arg
NM_001142605.2:c.2012A>G	NP_001136077.1:p.Gln671Arg
NM_001258353.2:c.2117A>G	NP_001245282.1:p.Gln706Arg
NM_001258354.2:c.2087A>G	NP_001245283.1:p.Gln696Arg