Canonical Allele Identifier: CA10588659
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265311
ClinVar RCV Id: RCV000254749
dbSNP Id: rs886039467
MyVariant Identifiers: chr17:g.42937271del (hg19) chr17:g.44859903del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859903del , CM000679.2:g.44859903del GRCh38
NC_000017.10:g.42937271del , CM000679.1:g.42937271del GRCh37
NC_000017.9:g.40292797del NCBI36
NG_032674.1:g.44723del

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1860+2del MANE Select ENSP00000392094.1:n.1860+2del
ENST00000402521.7:c.1755+2del ENSP00000385873.2:n.1755+2del
ENST00000426333.6:c.1860+2del ENSP00000392094.1:n.1860+2del
ENST00000586276.5:n.1522+2del
ENST00000590367.5:n.1588+2del
ENST00000591382.5:c.1860+2del ENSP00000467805.1:n.1860+2del
ENST00000592576.5:c.1830+2del ENSP00000465058.1:n.1830+2del
NM_001142605.1:c.1755+2del NP_001136077.1:n.1755+2del
NM_001258353.1:c.1860+2del NP_001245282.1:n.1860+2del
NM_001258354.1:c.1830+2del NP_001245283.1:n.1830+2del
NM_004247.3:c.1860+2del NP_004238.3:n.1860+2del
XR_934602.1:n.1945+2del
XR_934602.3:n.1941+2del
NM_004247.4:c.1860+2del MANE Select NP_004238.3:n.1860+2del
NM_001142605.2:c.1755+2del NP_001136077.1:n.1755+2del
NM_001258353.2:c.1860+2del NP_001245282.1:n.1860+2del
NM_001258354.2:c.1830+2del NP_001245283.1:n.1830+2del
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