EXT2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

EXT2 (exostosin glycosyltransferase 2)

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

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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

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
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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