Canonical Allele Identifier: CA399826549

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42964054A>C (hg19) ; chr17:g.44886686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886686A>C , CM000679.2:g.44886686A>C	GRCh38
NC_000017.10:g.42964054A>C , CM000679.1:g.42964054A>C	GRCh37
NC_000017.9:g.40319580A>C	NCBI36
NG_032674.1:g.17940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.170T>G MANE Select	ENSP00000392094.1:p.Val57Gly
ENST00000402521.7:c.65T>G	ENSP00000385873.2:p.Val22Gly
ENST00000426333.6:c.170T>G	ENSP00000392094.1:p.Val57Gly
ENST00000588374.1:c.82-1352T>G	ENSP00000467639.1:n.82-1352T>G
ENST00000589211.1:n.561T>G
ENST00000589825.5:n.251T>G
ENST00000591382.5:c.170T>G	ENSP00000467805.1:p.Val57Gly
ENST00000592408.5:n.381T>G
ENST00000592576.5:c.170T>G	ENSP00000465058.1:p.Val57Gly
ENST00000592701.2:c.170T>G	ENSP00000464908.1:p.Val57Gly
ENST00000593072.5:c.170T>G	ENSP00000464882.1:p.Val57Gly
NM_001142605.1:c.65T>G	NP_001136077.1:p.Val22Gly
NM_001258353.1:c.170T>G	NP_001245282.1:p.Val57Gly
NM_001258354.1:c.170T>G	NP_001245283.1:p.Val57Gly
NM_004247.3:c.170T>G	NP_004238.3:p.Val57Gly
XR_934602.1:n.255T>G
XR_934602.3:n.251T>G
NM_004247.4:c.170T>G MANE Select	NP_004238.3:p.Val57Gly
NM_001142605.2:c.65T>G	NP_001136077.1:p.Val22Gly
NM_001258353.2:c.170T>G	NP_001245282.1:p.Val57Gly
NM_001258354.2:c.170T>G	NP_001245283.1:p.Val57Gly