Canonical Allele Identifier: CA500313814

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 2744105
• ClinVar RCV Id: RCV003560682
• gnomAD v4: 17-44867861-G-T
• MyVariant Identifiers: chr17:g.42945229G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867861G>T , CM000679.2:g.44867861G>T	GRCh38
NC_000017.10:g.42945229G>T , CM000679.1:g.42945229G>T	GRCh37
NC_000017.9:g.40300755G>T	NCBI36
NG_032674.1:g.36765C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1095C>A MANE Select	ENSP00000392094.1:p.Ser365=
ENST00000402521.7:c.990C>A	ENSP00000385873.2:p.Ser330=
ENST00000426333.6:c.1095C>A	ENSP00000392094.1:p.Ser365=
ENST00000586654.5:n.150C>A
ENST00000590367.5:n.823C>A
ENST00000591382.5:c.1095C>A	ENSP00000467805.1:p.Ser365=
ENST00000591856.1:c.216C>A	ENSP00000468284.1:n.216C>A
ENST00000592576.5:c.1065C>A	ENSP00000465058.1:p.Ser355=
NM_001142605.1:c.990C>A	NP_001136077.1:p.Ser330=
NM_001258353.1:c.1095C>A	NP_001245282.1:p.Ser365=
NM_001258354.1:c.1065C>A	NP_001245283.1:p.Ser355=
NM_004247.3:c.1095C>A	NP_004238.3:p.Ser365=
XR_934602.1:n.1180C>A
XR_934602.3:n.1176C>A
NM_004247.4:c.1095C>A MANE Select	NP_004238.3:p.Ser365=
NM_001142605.2:c.990C>A	NP_001136077.1:p.Ser330=
NM_001258353.2:c.1095C>A	NP_001245282.1:p.Ser365=
NM_001258354.2:c.1065C>A	NP_001245283.1:p.Ser355=