Canonical Allele Identifier: CA399843900

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44854972-T-C
• MyVariant Identifiers: chr17:g.42932340T>C (hg19) ; chr17:g.44854972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854972T>C , CM000679.2:g.44854972T>C	GRCh38
NC_000017.10:g.42932340T>C , CM000679.1:g.42932340T>C	GRCh37
NC_000017.9:g.40287866T>C	NCBI36
NG_032674.1:g.49654A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2078A>G MANE Select	ENSP00000392094.1:p.Glu693Gly
ENST00000402521.7:c.1973A>G	ENSP00000385873.2:p.Glu658Gly
ENST00000426333.6:c.2078A>G	ENSP00000392094.1:p.Glu693Gly
ENST00000586276.5:n.1740A>G
ENST00000590124.5:c.80A>G	ENSP00000467249.1:p.Glu27Gly
ENST00000590367.5:n.1806A>G
ENST00000590977.5:n.686A>G
ENST00000591382.5:c.2078A>G	ENSP00000467805.1:p.Glu693Gly
ENST00000592576.5:c.2048A>G	ENSP00000465058.1:p.Glu683Gly
NM_001142605.1:c.1973A>G	NP_001136077.1:p.Glu658Gly
NM_001258353.1:c.2078A>G	NP_001245282.1:p.Glu693Gly
NM_001258354.1:c.2048A>G	NP_001245283.1:p.Glu683Gly
NM_004247.3:c.2078A>G	NP_004238.3:p.Glu693Gly
XR_934602.1:n.2163A>G
XR_934602.3:n.2159A>G
NM_004247.4:c.2078A>G MANE Select	NP_004238.3:p.Glu693Gly
NM_001142605.2:c.1973A>G	NP_001136077.1:p.Glu658Gly
NM_001258353.2:c.2078A>G	NP_001245282.1:p.Glu693Gly
NM_001258354.2:c.2048A>G	NP_001245283.1:p.Glu683Gly