Human (GRCh38.p14)
Description

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

Gene Synonyms

BCD541, GEMIN1, SMNC, TDRD16B

Location

Chromosome 5: 70,049,638-70,078,522 forward strand.

GRCh38:CM000667.2

View alleles of this gene on alternative sequences

About this gene

This gene has 15 transcripts (splice variants), 1 gene allele, 221 orthologues, 2 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000380743.9SMN2-2031482294aaENSP00000370119.4
 
Protein coding
CCDS4007Q16637-1 NM_017411.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000626847.2SMN2-2141440282aaENSP00000486152.1
 
Protein coding
CCDS54867Q16637-3 -GENCODE basicTSL:1
ENST00000380742.8SMN2-2021388262aaENSP00000370118.4
 
Protein coding
CCDS4008Q16637-2 -GENCODE basicTSL:5
ENST00000380741.8SMN2-201900294aaENSP00000370117.5
 
Protein coding
CCDS4007Q16637-1 -GENCODE basicAPPRIS P1TSL:1
ENST00000628696.2SMN2-215885294aaENSP00000486268.1
 
Protein coding
E7EQZ4 -GENCODE basicTSL:5
ENST00000511812.5SMN2-210867227aaENSP00000424282.1
 
Protein coding
B4DP61 -GENCODE basicTSL:2
ENST00000614240.4SMN2-213804262aaENSP00000479279.1
 
Protein coding
CCDS4008Q16637-2 -GENCODE basicTSL:5
ENST00000506734.5SMN2-2061550294aaENSP00000424799.1
 
Nonsense mediated decay
E7EQZ4 -TSL:5
ENST00000507458.2SMN2-207104546aaENSP00000475331.1
 
Nonsense mediated decay
U3KPX7 -TSL:3CDS 5' incomplete
ENST00000511873.6SMN2-21143179aaENSP00000475824.1
 
Nonsense mediated decay
H0YBZ9 -TSL:5CDS 5' incomplete
ENST00000503678.5SMN2-204761No protein-
 
Retained intron
--TSL:5
ENST00000505346.5SMN2-205707No protein-
 
Retained intron
--TSL:3
ENST00000514914.1SMN2-212662No protein-
 
Retained intron
--TSL:2
ENST00000509805.5SMN2-209499No protein-
 
Retained intron
--TSL:2
ENST00000508258.1SMN2-208211No protein-
 
Retained intron
--TSL:5