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Human (GRCh37.p13)
Description

tuberous sclerosis 2 [Source:HGNC Symbol;Acc:12363]

Gene Synonyms

LAM, TSC4, tuberin

Location
About this transcript

This transcript has 42 exons, is annotated with 30 domains and features, is associated with 21676 variant alleles and maps to 1103 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TSC2-001ENST00000219476.361561807aaENSP00000219476.3
 
Protein coding
CCDS10458P49815 NM_000548
NP_000539
GENCODE basic
TSC2-004ENST00000350773.455321784aaENSP00000344383.4
 
Protein coding
CCDS45384P49815 NM_001114382
NP_001107854
GENCODE basic
TSC2-003ENST00000401874.254211740aaENSP00000384468.2
 
Protein coding
CCDS58408P49815 NM_001077183
NP_001070651
GENCODE basic
TSC2-201ENST00000353929.455021764aaENSP00000248099.4
 
Protein coding
-P49815 -GENCODE basic
TSC2-006ENST00000568454.154291751aaENSP00000454487.1
 
Protein coding
-H3BMQ0 -GENCODE basic
TSC2-017ENST00000439673.252871704aaENSP00000399232.2
 
Protein coding
-P49815 -GENCODE basic
TSC2-007ENST00000382538.652641692aaENSP00000371978.6
 
Protein coding
-B4DIL8 -GENCODE basic
TSC2-019ENST00000569110.11687535aaENSP00000455817.1
 
Protein coding
---CDS 5' incomplete
TSC2-009ENST00000467949.1590196aaENSP00000454997.1
 
Protein coding
-H3BNT5 -CDS 5' and 3' incomplete
TSC2-020ENST00000432909.2374125aaENSP00000387937.2
 
Protein coding
---CDS 5' and 3' incomplete
TSC2-002ENST00000439117.25073108aaENSP00000406980.2
 
Nonsense mediated decay
-Q5HYF7 --
TSC2-014ENST00000471143.157732aaENSP00000458541.1
 
Nonsense mediated decay
---CDS 5' incomplete
TSC2-015ENST00000483020.156335aaENSP00000460310.1
 
Nonsense mediated decay
-I3L3B1 -CDS 5' incomplete
TSC2-021ENST00000568566.154230aaENSP00000455997.1
 
Nonsense mediated decay
-H3BQY7 -CDS 5' incomplete
TSC2-024ENST00000568366.1767No protein-
 
Processed transcript
----
TSC2-027ENST00000562474.1589No protein-
 
Processed transcript
----
TSC2-005ENST00000497886.13248No protein-
 
Retained intron
----
TSC2-016ENST00000569930.12621No protein-
 
Retained intron
----
TSC2-008ENST00000461648.21071No protein-
 
Retained intron
----
TSC2-013ENST00000463808.1842No protein-
 
Retained intron
----
TSC2-026ENST00000568692.1636No protein-
 
Retained intron
----
TSC2-010ENST00000463601.1600No protein-
 
Retained intron
----
TSC2-012ENST00000488675.1567No protein-
 
Retained intron
----
TSC2-025ENST00000561695.1555No protein-
 
Retained intron
----
TSC2-023ENST00000563346.1553No protein-
 
Retained intron
----
TSC2-011ENST00000490108.1482No protein-
 
Retained intron
----
TSC2-022ENST00000568238.1422No protein-
 
Retained intron
----
Statistics

Exons: 42, Coding exons: 41, Transcript length: 6,156 bps, Translation length: 1,807 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS10458

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49815

Version

ENST00000219476.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000250657 (version 2)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays