The ECE2 gene homepage

General information
Gene symbol ECE2
Gene name endothelin converting enzyme 2
Chromosome 3
Chromosomal band q27.1
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_001037324.2, NM_001100120.1, NM_001100121.1, NM_014693.3
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 152
Unique public DNA variants reported 16
Individuals with public variants 35
Hidden variants 30
Date created November 30, -0001
Date last updated September 28, 2016
Version ECE2:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:13275
Entrez Gene 9718
PubMed articles ECE2
OMIM - Gene 610145


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011274 3 transcript variant 1 NM_014693.3 NP_055508.3 121
00030978 3 Manually created transcript NM_001100120.1 - 115
00030961 3 Manually created transcript NM_001037324.2 - 85
00030979 3 Manually created transcript NM_001100121.1 - 85