Canonical Allele Identifier: CA399826371

Gene: EFTUD2

Linked Data

• dbSNP Id: rs1396480488
• gnomAD v2: 17-42964003-C-T
• MyVariant Identifiers: chr17:g.42964003C>T (hg19) ; chr17:g.44886635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886635C>T , CM000679.2:g.44886635C>T	GRCh38
NC_000017.10:g.42964003C>T , CM000679.1:g.42964003C>T	GRCh37
NC_000017.9:g.40319529C>T	NCBI36
NG_032674.1:g.17991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.221G>A MANE Select	ENSP00000392094.1:p.Gly74Asp
ENST00000402521.7:c.116G>A	ENSP00000385873.2:p.Gly39Asp
ENST00000426333.6:c.221G>A	ENSP00000392094.1:p.Gly74Asp
ENST00000588374.1:c.82-1301G>A	ENSP00000467639.1:n.82-1301G>A
ENST00000589825.5:n.302G>A
ENST00000591382.5:c.221G>A	ENSP00000467805.1:p.Gly74Asp
ENST00000592408.5:n.432G>A
ENST00000592576.5:c.221G>A	ENSP00000465058.1:p.Gly74Asp
ENST00000592701.2:c.221G>A	ENSP00000464908.1:p.Gly74Asp
ENST00000593072.5:c.221G>A	ENSP00000464882.1:p.Gly74Asp
NM_001142605.1:c.116G>A	NP_001136077.1:p.Gly39Asp
NM_001258353.1:c.221G>A	NP_001245282.1:p.Gly74Asp
NM_001258354.1:c.221G>A	NP_001245283.1:p.Gly74Asp
NM_004247.3:c.221G>A	NP_004238.3:p.Gly74Asp
XR_934602.1:n.306G>A
XR_934602.3:n.302G>A
NM_004247.4:c.221G>A MANE Select	NP_004238.3:p.Gly74Asp
NM_001142605.2:c.116G>A	NP_001136077.1:p.Gly39Asp
NM_001258353.2:c.221G>A	NP_001245282.1:p.Gly74Asp
NM_001258354.2:c.221G>A	NP_001245283.1:p.Gly74Asp