NF2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

NF2 (neurofibromin 2)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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	88
Unique public DNA variants reported	46
Individuals with public variants	96
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	NF2:220516

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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000145	22	neurofibromin 2 (merlin), transcript variant 1	NM_000268.3	NP_000259.1	88
00000148	22	neurofibromin 2 (merlin), transcript variant 2	NM_016418.5	NP_057502.2	88
00000149	22	neurofibromin 2 (merlin), transcript variant 5	NM_181828.2	NP_861966.1	88
00000150	22	neurofibromin 2 (merlin), transcript variant 6	NM_181829.2	NP_861967.1	88
00000151	22	neurofibromin 2 (merlin), transcript variant 7	NM_181830.2	NP_861968.1	88
00000152	22	neurofibromin 2 (merlin), transcript variant 8	NM_181832.2	NP_861970.1	88
00000153	22	neurofibromin 2 (merlin), transcript variant 9	NM_181833.2	NP_861971.1	88
00000146	22	neurofibromin 2 (merlin), transcript variant 12	NM_181825.2	NP_861546.1	80
00000147	22	neurofibromin 2 (merlin), transcript variant 13	NM_181831.2	NP_861969.1	80

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