Human (GRCh37.p13)
Description

survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118]

Gene Synonyms

BCD541, C-BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN1, SMN2, SMNC, SMNT, T-BCD541, TDRD16A, TDRD16B

Location
About this transcript

This transcript has 7 exons, is annotated with 6 domains and features, is associated with 3095 variant alleles and maps to 467 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000380741.4SMN2-2011573282aaENSP00000370117.4
 
Protein coding
CCDS54867Q16637 Q9UNT8 NM_022877.2GENCODE basic
ENST00000380743.4SMN2-0011536294aaENSP00000370119.4
 
Protein coding
CCDS4007Q16637 Q9UNT8 NM_017411.3GENCODE basic
ENST00000380742.4SMN2-0021388262aaENSP00000370118.4
 
Protein coding
CCDS4008I3QJX9 Q16637 Q9UNT8
NM_022876.2GENCODE basic
ENST00000511812.1SMN2-004867227aaENSP00000424282.1
 
Protein coding
B4DP61 I2E4S7 Q9UNT8
-GENCODE basic
ENST00000506734.1SMN2-0031550294aaENSP00000424799.1
 
Nonsense mediated decay
E7EQZ4 Q9UNT8 --
ENST00000507458.2SMN2-005104546aaENSP00000475331.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000511873.2SMN2-01243179aaENSP00000475824.1
 
Nonsense mediated decay
H0YBZ9 -CDS 5' incomplete
ENST00000503678.1SMN2-006761No protein-
 
Retained intron
---
ENST00000505346.1SMN2-007707No protein-
 
Retained intron
---
ENST00000514914.1SMN2-013662No protein-
 
Retained intron
---
ENST00000509805.1SMN2-011499No protein-
 
Retained intron
---
ENST00000508258.1SMN2-014211No protein-
 
Retained intron
---
Statistics

Exons: 7, Coding exons: 7, Transcript length: 867 bps, Translation length: 227 residues

Version

ENST00000511812.1

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:
OTTHUMT00000368718 (version 1)
GENCODE basic gene

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