Allele Registry

Canonical Allele Identifier: CA275517

Gene: EFTUD2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44876039dupA

GRCh38 chr17:g.44876038_44876039insA

GRCh37 chr17:g.42953407dupA

GRCh37 chr17:g.42953406_42953407insA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000185561

ClinVar Variation:

203386

dbSNP:

794729651

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44876039dup , CM000679.2:g.44876039dup	GRCh38
NC_000017.10:g.42953407dup , CM000679.1:g.42953407dup	GRCh37
NC_000017.9:g.40308933dup	NCBI36
NG_032674.1:g.28587dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.764dup MANE Select	ENSP00000392094.1:p.Cys256ValfsTer6
ENST00000402521.7:c.659dup	ENSP00000385873.2:p.Cys221ValfsTer6
ENST00000426333.6:c.764dup	ENSP00000392094.1:p.Cys256ValfsTer6
ENST00000587957.1:n.97dup
ENST00000591382.5:c.764dup	ENSP00000467805.1:p.Cys256ValfsTer6
ENST00000592576.5:c.734dup	ENSP00000465058.1:p.Cys246ValfsTer6
ENST00000593200.5:n.385dup
NM_001142605.1:c.659dup	NP_001136077.1:p.Cys221ValfsTer6
NM_001258353.1:c.764dup	NP_001245282.1:p.Cys256ValfsTer6
NM_001258354.1:c.734dup	NP_001245283.1:p.Cys246ValfsTer6
NM_004247.3:c.764dup	NP_004238.3:p.Cys256ValfsTer6
XR_934602.1:n.849dup
XR_934602.3:n.845dup
NM_004247.4:c.764dup MANE Select	NP_004238.3:p.Cys256ValfsTer6
NM_001142605.2:c.659dup	NP_001136077.1:p.Cys221ValfsTer6
NM_001258353.2:c.764dup	NP_001245282.1:p.Cys256ValfsTer6
NM_001258354.2:c.734dup	NP_001245283.1:p.Cys246ValfsTer6

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