Canonical Allele Identifier: CA399816170

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867895-C-A
• MyVariant Identifiers: chr17:g.42945263C>A (hg19) ; chr17:g.44867895C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867895C>A , CM000679.2:g.44867895C>A	GRCh38
NC_000017.10:g.42945263C>A , CM000679.1:g.42945263C>A	GRCh37
NC_000017.9:g.40300789C>A	NCBI36
NG_032674.1:g.36731G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1061G>T MANE Select	ENSP00000392094.1:p.Arg354Leu
ENST00000402521.7:c.956G>T	ENSP00000385873.2:p.Arg319Leu
ENST00000426333.6:c.1061G>T	ENSP00000392094.1:p.Arg354Leu
ENST00000586654.5:n.116G>T
ENST00000590367.5:n.789G>T
ENST00000591382.5:c.1061G>T	ENSP00000467805.1:p.Arg354Leu
ENST00000591856.1:c.182G>T	ENSP00000468284.1:n.182G>T
ENST00000592576.5:c.1031G>T	ENSP00000465058.1:p.Arg344Leu
NM_001142605.1:c.956G>T	NP_001136077.1:p.Arg319Leu
NM_001258353.1:c.1061G>T	NP_001245282.1:p.Arg354Leu
NM_001258354.1:c.1031G>T	NP_001245283.1:p.Arg344Leu
NM_004247.3:c.1061G>T	NP_004238.3:p.Arg354Leu
XR_934602.1:n.1146G>T
XR_934602.3:n.1142G>T
NM_004247.4:c.1061G>T MANE Select	NP_004238.3:p.Arg354Leu
NM_001142605.2:c.956G>T	NP_001136077.1:p.Arg319Leu
NM_001258353.2:c.1061G>T	NP_001245282.1:p.Arg354Leu
NM_001258354.2:c.1031G>T	NP_001245283.1:p.Arg344Leu