ABCA2 gene homepage

General information
Gene symbol ABCA2
Gene name ATP binding cassette subfamily A member 2
Chromosome 9
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_011789.1
Transcript reference NM_001606.4, NM_212533.2, XM_006716996.2, XM_011518346.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 108
Unique public DNA variants reported 108
Individuals with public variants 106
Hidden variants 0
Date created November 25, 2015
Date last updated December 07, 2017
Version ABCA2:171207

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 32
Entrez Gene 20
PubMed articles ABCA2
OMIM - Gene 600047
HGMD ABCA2
GeneCards ABCA2
GeneTests ABCA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00041722 9 ATP-binding cassette, sub-family A (ABC1), member 2, transcript variant 1 NM_001606.4 NP_001597.2 108
00041723 9 ATP-binding cassette, sub-family A (ABC1), member 2, transcript variant 2 NM_212533.2 NP_997698.1 108
00041724 9 ATP-binding cassette, sub-family A (ABC1), member 2, transcript variant X2 XM_006716996.2 XP_006717059.1 108
00041725 9 ATP-binding cassette, sub-family A (ABC1), member 2, transcript variant X1 XM_011518346.1 XP_011516648.1 108


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