Canonical Allele Identifier: CA399816149

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 432757
• ClinVar RCV Id: RCV000498751
• dbSNP Id: rs1555566527
• MyVariant Identifiers: chr17:g.42945258A>C (hg19) ; chr17:g.44867890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867890A>C , CM000679.2:g.44867890A>C	GRCh38
NC_000017.10:g.42945258A>C , CM000679.1:g.42945258A>C	GRCh37
NC_000017.9:g.40300784A>C	NCBI36
NG_032674.1:g.36736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1066T>G MANE Select	ENSP00000392094.1:p.Phe356Val
ENST00000402521.7:c.961T>G	ENSP00000385873.2:p.Phe321Val
ENST00000426333.6:c.1066T>G	ENSP00000392094.1:p.Phe356Val
ENST00000586654.5:n.121T>G
ENST00000590367.5:n.794T>G
ENST00000591382.5:c.1066T>G	ENSP00000467805.1:p.Phe356Val
ENST00000591856.1:c.187T>G	ENSP00000468284.1:n.187T>G
ENST00000592576.5:c.1036T>G	ENSP00000465058.1:p.Phe346Val
NM_001142605.1:c.961T>G	NP_001136077.1:p.Phe321Val
NM_001258353.1:c.1066T>G	NP_001245282.1:p.Phe356Val
NM_001258354.1:c.1036T>G	NP_001245283.1:p.Phe346Val
NM_004247.3:c.1066T>G	NP_004238.3:p.Phe356Val
XR_934602.1:n.1151T>G
XR_934602.3:n.1147T>G
NM_004247.4:c.1066T>G MANE Select	NP_004238.3:p.Phe356Val
NM_001142605.2:c.961T>G	NP_001136077.1:p.Phe321Val
NM_001258353.2:c.1066T>G	NP_001245282.1:p.Phe356Val
NM_001258354.2:c.1036T>G	NP_001245283.1:p.Phe346Val