ELF2 gene page:

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Variant policy

To annotate a new variant, you need to fill in the form with the HGVS 'c.' nomenclature. By default, the canonical isoform is selected.

If your gene of interest has several isoforms in MobiDetails, please consider to use the canonical to create your variant. If you select an alternative isoform, MobiDetails will in addition try to annotate the variant on the canonical isoform. Both annotations may be available.

In the 'Get variants' tab, variants are shown attached to their isoform.



General features Get variants

ELF2

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Run a variant (NM_001331036.3) Choose an isoform

Running a variant means mainly generating HGVS nomenclatures via VariantValidator and creating the entry in the database. Then the variant is available forever in MobiDetails.



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Choose your destination:
  • gnomADv2 / gnomADv3 browser
  • NCBI gene
  • OMIM
  • PubMatcher
  • UCSC (hg19) / UCSC (hg38)
  • Searching for PanelApp entity...
  • AlphaFold
  • MD Gene page
Gene info table:
Chr Strand Gene name Genomic Accession # Synonymous
obs/exp* (CI)		 Missense
obs/exp* (CI)		 Loss of function
obs/exp* (CI)		 OncoKB***
is oncogene?		 OncoKB***
is tumor suppressor?
4 - E74 like ETS transcription factor 2 No NG accession number 0.91
(0.77-1.07)		 0.74
(0.67-0.83)		 0.08
(0.03-0.26) 		No No


SpliceAI-visual pre-computed raw scores for ELF2:





Transcript available for annotation in MobiDetails:



Transcript info table:
RefSeq transcript** Ensembl transcript Number of exons RefSeq protein Uniprot ID
NM_001371324.1 None 11 NP_001358253.1 None
NM_001371337.1 None 11 NP_001358266.1 None
NM_201999.3 ENST00000394235 10 NP_973728.1 Q15723
NM_001331036.1
RefSeqSelect
ENST00000379550 10 NP_001317965.1 Q15723
NM_001371339.1 None 10 NP_001358268.1 None
NM_201999.2 ENST00000379550 10 NP_973728.1 Q15723
NM_001371338.1 None 10 NP_001358267.1 None
NM_001331036.2
RefSeqSelect
ENST00000379550 10 NP_001317965.1 Q15723
NM_001331036.3
MD canonical
RefSeqSelect
MANESelect
ENST00000379550 10 NP_001317965.1 Q15723
NM_001371336.1 None 9 NP_001358265.1 None
NM_001276458.1 ENST00000358635 7 NP_001263387.1 Q15723
NM_001276458.2 ENST00000510408 7 NP_001263387.1 Q15723
NM_006874.3 ENST00000358635 7 NP_006865.1 Q15723
NM_006874.4 ENST00000358635 7 NP_006865.1 Q15723
NM_006874.5 ENST00000358635 7 NP_006865.1 Q15723
NM_001276458.3 ENST00000510408 7 NP_001263387.1 Q15723
NM_001276459.3 None 6 NP_001263388.1 Q15723
NM_001276459.2 None 6 NP_001263388.1 Q15723
NM_001276459.1 ENST00000379549 6 NP_001263388.1 Q15723
NM_001276457.1 ENST00000379549 6 NP_001263386.1 Q15723
NM_001276457.2 ENST00000379549 6 NP_001263386.1 Q15723


*In gnomAD, the previous pLi, pRec and pNull scores have been replaced by the more accurate observed/expected scores.
Synonymous variants, nsSNVs (missense) and Loss of functions variants are reported for each gene, and compared with the expected numbers based on size and compositon of the gene. A Confidence Interval is given to better appreciate the value and if needed a threshold is defined: a class of variants is considered under constraint if the upper bound of the CI is < 0.35. See 'Gene constraint' explanations in gnomAD browser for more details.
**If the MD canonical transcript does not match the RefSeqSelect or MANESelect transcript and that there is no obvious reason to it, feel free to contact us in order to check and possibly change the MD canonical transcript. More information on the MANE project here.
***Version of the OncoKB cancer gene list available at the about page.