Allele Registry

Canonical Allele Identifier: CA10575552

Gene: EFTUD2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44860005_44860006del

GRCh37 chr17:g.42937373_42937374del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000023355

ClinVar Variation:

30402

dbSNP:

879253725

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44860006_44860007del , CM000679.2:g.44860006_44860007del	GRCh38
NC_000017.10:g.42937374_42937375del , CM000679.1:g.42937374_42937375del	GRCh37
NC_000017.9:g.40292900_40292901del	NCBI36
NG_032674.1:g.44620_44621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1759_1760del MANE Select	ENSP00000392094.1:p.Val587TyrfsTer18
ENST00000402521.7:c.1654_1655del	ENSP00000385873.2:p.Val552TyrfsTer18
ENST00000426333.6:c.1759_1760del	ENSP00000392094.1:p.Val587TyrfsTer18
ENST00000586276.5:n.1421_1422del
ENST00000590367.5:n.1487_1488del
ENST00000591382.5:c.1759_1760del	ENSP00000467805.1:p.Val587TyrfsTer18
ENST00000592576.5:c.1729_1730del	ENSP00000465058.1:p.Val577TyrfsTer18
NM_001142605.1:c.1654_1655del	NP_001136077.1:p.Val552TyrfsTer18
NM_001258353.1:c.1759_1760del	NP_001245282.1:p.Val587TyrfsTer18
NM_001258354.1:c.1729_1730del	NP_001245283.1:p.Val577TyrfsTer18
NM_004247.3:c.1759_1760del	NP_004238.3:p.Val587TyrfsTer18
XR_934602.1:n.1844_1845del
XR_934602.3:n.1840_1841del
NM_004247.4:c.1759_1760del MANE Select	NP_004238.3:p.Val587TyrfsTer18
NM_001142605.2:c.1654_1655del	NP_001136077.1:p.Val552TyrfsTer18
NM_001258353.2:c.1759_1760del	NP_001245282.1:p.Val587TyrfsTer18
NM_001258354.2:c.1729_1730del	NP_001245283.1:p.Val577TyrfsTer18

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