Description

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [Source:HGNC Symbol;Acc:HGNC:3413]

Synonyms

LD, LDE

About this transcript

This transcript has 4 exons, is annotated with 17 domains and features, is associated with 156 variations and maps to 43 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
EPM2A-002ENST000003675193633331aaENSP00000356489
 
Protein coding
CCDS5206O95278 NM_005670
NP_005661
TSL:1GENCODE basicAPPRIS P1
EPM2A-201ENST000006113403641193aaENSP00000480268
 
Protein coding
-H0UI04 O95278 -TSL:1GENCODE basic
EPM2A-202ENST000006184451694317aaENSP00000480339
 
Protein coding
-O95278 NM_001018041
NP_001018051
TSL:1GENCODE basic
EPM2A-004ENST000004354701037237aaENSP00000405913
 
Protein coding
-H0Y6I8 -CDS 5' incompleteTSL:1
EPM2A-001ENST00000450221736170aaENSP00000414900
 
Protein coding
-H0Y7S8 -CDS 5' incompleteTSL:3
EPM2A-005ENST00000496228781No protein-
 
Processed transcript
---TSL:3
EPM2A-003ENST00000461700555No protein-
 
Processed transcript
---TSL:3
EPM2A-006ENST00000489412497No protein-
 
Processed transcript
---TSL:3

Protein domains for ENSP00000356489.3

Transcript-based displays