Canonical Allele Identifier: CA399816025

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867862-G-A
• COSMIC: COSM3989066
• MyVariant Identifiers: chr17:g.42945230G>A (hg19) ; chr17:g.44867862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867862G>A , CM000679.2:g.44867862G>A	GRCh38
NC_000017.10:g.42945230G>A , CM000679.1:g.42945230G>A	GRCh37
NC_000017.9:g.40300756G>A	NCBI36
NG_032674.1:g.36764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1094C>T MANE Select	ENSP00000392094.1:p.Ser365Phe
ENST00000402521.7:c.989C>T	ENSP00000385873.2:p.Ser330Phe
ENST00000426333.6:c.1094C>T	ENSP00000392094.1:p.Ser365Phe
ENST00000586654.5:n.149C>T
ENST00000590367.5:n.822C>T
ENST00000591382.5:c.1094C>T	ENSP00000467805.1:p.Ser365Phe
ENST00000591856.1:c.215C>T	ENSP00000468284.1:n.215C>T
ENST00000592576.5:c.1064C>T	ENSP00000465058.1:p.Ser355Phe
NM_001142605.1:c.989C>T	NP_001136077.1:p.Ser330Phe
NM_001258353.1:c.1094C>T	NP_001245282.1:p.Ser365Phe
NM_001258354.1:c.1064C>T	NP_001245283.1:p.Ser355Phe
NM_004247.3:c.1094C>T	NP_004238.3:p.Ser365Phe
XR_934602.1:n.1179C>T
XR_934602.3:n.1175C>T
NM_004247.4:c.1094C>T MANE Select	NP_004238.3:p.Ser365Phe
NM_001142605.2:c.989C>T	NP_001136077.1:p.Ser330Phe
NM_001258353.2:c.1094C>T	NP_001245282.1:p.Ser365Phe
NM_001258354.2:c.1064C>T	NP_001245283.1:p.Ser355Phe