EXT2 gene homepage

General information
Gene symbol EXT2
Gene name exostosin glycosyltransferase 2
Chromosome 11
Chromosomal band p11.2
Imprinted Unknown
Genomic reference LRG_494
Transcript reference NM_000401.3, NM_001178083.1, NM_207122.1
Associated with diseases EXT2, SSMS
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 125
Unique public DNA variants reported 59
Individuals with public variants 145
Hidden variants 0
Date created May 20, 2020
Date last updated October 01, 2020
Version EXT2:201001

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 3513
Entrez Gene 2132
PubMed articles EXT2
OMIM - Gene 608210
OMIM - Diseases EXT2 (Exostoses, multiple, type 2)
SSMS (Seizures, scoliosis, and macrocephaly syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000061 11 transcript variant 1 NM_000401.3 NP_000392.3 125
00000062 11 transcript variant 2 NM_207122.1 NP_997005.1 125
00000063 11 transcript variant 3 NM_001178083.1 NP_001171554.1 125

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