Canonical Allele Identifier: CA399843877

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42932337T>A (hg19) ; chr17:g.44854969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854969T>A , CM000679.2:g.44854969T>A	GRCh38
NC_000017.10:g.42932337T>A , CM000679.1:g.42932337T>A	GRCh37
NC_000017.9:g.40287863T>A	NCBI36
NG_032674.1:g.49657A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2081A>T MANE Select	ENSP00000392094.1:p.Lys694Met
ENST00000402521.7:c.1976A>T	ENSP00000385873.2:p.Lys659Met
ENST00000426333.6:c.2081A>T	ENSP00000392094.1:p.Lys694Met
ENST00000586276.5:n.1743A>T
ENST00000590124.5:c.83A>T	ENSP00000467249.1:p.Lys28Met
ENST00000590367.5:n.1809A>T
ENST00000590977.5:n.689A>T
ENST00000591382.5:c.2081A>T	ENSP00000467805.1:p.Lys694Met
ENST00000592576.5:c.2051A>T	ENSP00000465058.1:p.Lys684Met
NM_001142605.1:c.1976A>T	NP_001136077.1:p.Lys659Met
NM_001258353.1:c.2081A>T	NP_001245282.1:p.Lys694Met
NM_001258354.1:c.2051A>T	NP_001245283.1:p.Lys684Met
NM_004247.3:c.2081A>T	NP_004238.3:p.Lys694Met
XR_934602.1:n.2166A>T
XR_934602.3:n.2162A>T
NM_004247.4:c.2081A>T MANE Select	NP_004238.3:p.Lys694Met
NM_001142605.2:c.1976A>T	NP_001136077.1:p.Lys659Met
NM_001258353.2:c.2081A>T	NP_001245282.1:p.Lys694Met
NM_001258354.2:c.2051A>T	NP_001245283.1:p.Lys684Met