Canonical Allele Identifier: CA658684126

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 488388
• ClinVar RCV Id: RCV000578176
• dbSNP Id: rs1555564126
• MyVariant Identifiers: chr17:g.42930674del (hg19) ; chr17:g.44853306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44853307del , CM000679.2:g.44853307del	GRCh38
NC_000017.10:g.42930675del , CM000679.1:g.42930675del	GRCh37
NC_000017.9:g.40286201del	NCBI36
NG_032674.1:g.51320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2551del MANE Select	ENSP00000392094.1:p.Ala851ProfsTer7
ENST00000402521.7:c.2446del	ENSP00000385873.2:p.Ala816ProfsTer7
ENST00000426333.6:c.2551del	ENSP00000392094.1:p.Ala851ProfsTer7
ENST00000586276.5:n.2846del
ENST00000589769.1:c.314+211del
ENST00000590124.5:c.468+211del	ENSP00000467249.1:n.468+211del
ENST00000590367.5:n.2912del
ENST00000590977.5:n.1707+211del
ENST00000591382.5:c.2551del	ENSP00000467805.1:p.Ala851ProfsTer7
ENST00000592576.5:c.2521del	ENSP00000465058.1:p.Ala841ProfsTer7
NM_001142605.1:c.2446del	NP_001136077.1:p.Ala816ProfsTer7
NM_001258353.1:c.2551del	NP_001245282.1:p.Ala851ProfsTer7
NM_001258354.1:c.2521del	NP_001245283.1:p.Ala841ProfsTer7
NM_004247.3:c.2551del	NP_004238.3:p.Ala851ProfsTer7
XR_934602.1:n.2551+211del
XR_934602.3:n.2547+211del
NM_004247.4:c.2551del MANE Select	NP_004238.3:p.Ala851ProfsTer7
NM_001142605.2:c.2446del	NP_001136077.1:p.Ala816ProfsTer7
NM_001258353.2:c.2551del	NP_001245282.1:p.Ala851ProfsTer7
NM_001258354.2:c.2521del	NP_001245283.1:p.Ala841ProfsTer7