Canonical Allele Identifier: CA399843568

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42932292C>A (hg19) ; chr17:g.44854924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854924C>A , CM000679.2:g.44854924C>A	GRCh38
NC_000017.10:g.42932292C>A , CM000679.1:g.42932292C>A	GRCh37
NC_000017.9:g.40287818C>A	NCBI36
NG_032674.1:g.49702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2126G>T MANE Select	ENSP00000392094.1:p.Trp709Leu
ENST00000402521.7:c.2021G>T	ENSP00000385873.2:p.Trp674Leu
ENST00000426333.6:c.2126G>T	ENSP00000392094.1:p.Trp709Leu
ENST00000586276.5:n.1788G>T
ENST00000590124.5:c.128G>T	ENSP00000467249.1:p.Trp43Leu
ENST00000590367.5:n.1854G>T
ENST00000590977.5:n.734G>T
ENST00000591382.5:c.2126G>T	ENSP00000467805.1:p.Trp709Leu
ENST00000592576.5:c.2096G>T	ENSP00000465058.1:p.Trp699Leu
NM_001142605.1:c.2021G>T	NP_001136077.1:p.Trp674Leu
NM_001258353.1:c.2126G>T	NP_001245282.1:p.Trp709Leu
NM_001258354.1:c.2096G>T	NP_001245283.1:p.Trp699Leu
NM_004247.3:c.2126G>T	NP_004238.3:p.Trp709Leu
XR_934602.1:n.2211G>T
XR_934602.3:n.2207G>T
NM_004247.4:c.2126G>T MANE Select	NP_004238.3:p.Trp709Leu
NM_001142605.2:c.2021G>T	NP_001136077.1:p.Trp674Leu
NM_001258353.2:c.2126G>T	NP_001245282.1:p.Trp709Leu
NM_001258354.2:c.2096G>T	NP_001245283.1:p.Trp699Leu