NF2 gene homepage

General information
Gene symbol NF2
Gene name neurofibromin 2
Chromosome 22
Chromosomal band q12.2
Imprinted Unknown
Genomic reference LRG_511
Transcript reference NM_000268.3, NM_016418.5, NM_181825.2, NM_181828.2, NM_181829.2, NM_181830.2, NM_181831.2, NM_181832.2, NM_181833.2
Associated with diseases NF2
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 74
Unique public DNA variants reported 40
Individuals with public variants 80
Hidden variants 0
Date created May 20, 2020
Date last updated June 17, 2020
Version NF2:200617

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 7773
Entrez Gene 4771
PubMed articles NF2
OMIM - Gene 607379
OMIM - Diseases NF2 (Neurofibromatosis, type 2)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000145 22 neurofibromin 2 (merlin), transcript variant 1 NM_000268.3 NP_000259.1 74
00000148 22 neurofibromin 2 (merlin), transcript variant 2 NM_016418.5 NP_057502.2 74
00000149 22 neurofibromin 2 (merlin), transcript variant 5 NM_181828.2 NP_861966.1 74
00000150 22 neurofibromin 2 (merlin), transcript variant 6 NM_181829.2 NP_861967.1 74
00000151 22 neurofibromin 2 (merlin), transcript variant 7 NM_181830.2 NP_861968.1 74
00000152 22 neurofibromin 2 (merlin), transcript variant 8 NM_181832.2 NP_861970.1 74
00000153 22 neurofibromin 2 (merlin), transcript variant 9 NM_181833.2 NP_861971.1 74
00000146 22 neurofibromin 2 (merlin), transcript variant 12 NM_181825.2 NP_861546.1 66
00000147 22 neurofibromin 2 (merlin), transcript variant 13 NM_181831.2 NP_861969.1 66


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