The NOTCH2 gene homepage

General information
Gene symbol NOTCH2
Gene name notch 2
Chromosome 1
Chromosomal band p13-p11
Imprinted Unknown
Genomic reference NG_008163.1
Transcript reference NM_024408.3
Associated with diseases ALGS1, ALGS2, HJCYS
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 261
Unique public DNA variants reported 184
Individuals with public variants 79
Hidden variants 15
Date created May 03, 2013
Date last updated November 01, 2022
Version NOTCH2:221101

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 7882
Entrez Gene 4853
PubMed articles NOTCH2
OMIM - Gene 600275
OMIM - Diseases ALGS1 (Alagille syndrome, type 1 (ALGS1))
ALGS2 (Alagille syndrome, type 2 (ALGS-2))
HJCYS (Hajdu-Cheney syndrome (HJCYS))
Orphanet NOTCH2

Active transcripts




NCBI ID     

NCBI Protein ID     

00014699 1 transcript variant 1 NM_024408.3 NP_077719.2 261

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