Allele Registry

Canonical Allele Identifier: CA10588658

Gene: EFTUD2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44852423_44852426del

GRCh37 chr17:g.42929791_42929794del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000254790

RCV001331177

ClinVar Variation:

265116

dbSNP:

886039349

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44852430_44852433del , CM000679.2:g.44852430_44852433del	GRCh38
NC_000017.10:g.42929798_42929801del , CM000679.1:g.42929798_42929801del	GRCh37
NC_000017.9:g.40285324_40285327del	NCBI36
NG_032674.1:g.52200_52203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2698_2701del MANE Select	ENSP00000392094.1:p.Val900SerfsTer?
ENST00000402521.7:c.2593_2596del	ENSP00000385873.2:p.Val865SerfsTer?
ENST00000426333.6:c.2698_2701del	ENSP00000392094.1:p.Val900SerfsTer?
ENST00000586276.5:n.2993_2996del
ENST00000589769.1:c.451_454del
ENST00000590124.5:c.469-609_469-606del	ENSP00000467249.1:n.469-609_469-606del
ENST00000590367.5:n.3059_3062del
ENST00000590977.5:n.1844_1847del
ENST00000591382.5:c.2698_2701del	ENSP00000467805.1:p.Val900SerfsTer?
ENST00000592576.5:c.2668_2671del	ENSP00000465058.1:p.Val890SerfsTer?
NM_001142605.1:c.2593_2596del	NP_001136077.1:p.Val865SerfsTer?
NM_001258353.1:c.2698_2701del	NP_001245282.1:p.Val900SerfsTer?
NM_001258354.1:c.2668_2671del	NP_001245283.1:p.Val890SerfsTer?
NM_004247.3:c.2698_2701del	NP_004238.3:p.Val900SerfsTer?
XR_934602.1:n.2688_2691del
XR_934602.3:n.2684_2687del
NM_004247.4:c.2698_2701del MANE Select	NP_004238.3:p.Val900SerfsTer?
NM_001142605.2:c.2593_2596del	NP_001136077.1:p.Val865SerfsTer?
NM_001258353.2:c.2698_2701del	NP_001245282.1:p.Val900SerfsTer?
NM_001258354.2:c.2668_2671del	NP_001245283.1:p.Val890SerfsTer?

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