Gene: SMN2 ENSG00000205571

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

Chromosome 5: 69,345,350-69,374,349 forward strand.

GRCh37:CM000667.1

View alleles of this gene on alternative sequences

About this gene

This gene has 12 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380743.4	SMN2-001	1536	294aa	ENSP00000370119.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4007	Q16637 Q9UNT8	NM_017411.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000380741.4	SMN2-201	1573	282aa	ENSP00000370117.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54867	Q16637 Q9UNT8	NM_022877.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000380742.4	SMN2-002	1388	262aa	ENSP00000370118.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4008	I3QJX9 Q16637 Q9UNT8	NM_022876.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511812.1	SMN2-004	867	227aa	ENSP00000424282.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DP61 I2E4S7 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506734.1	SMN2-003	1550	294aa	ENSP00000424799.1	Nonsense mediated decay		E7EQZ4 Q9UNT8	-	-
ENST00000507458.2	SMN2-005	1045	46aa	ENSP00000475331.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000511873.2	SMN2-012	431	79aa	ENSP00000475824.1	Nonsense mediated decay		H0YBZ9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000503678.1	SMN2-006	761	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000505346.1	SMN2-007	707	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000514914.1	SMN2-013	662	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000509805.1	SMN2-011	499	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000508258.1	SMN2-014	211	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: SMN2 ENSG00000205571

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EMBL-EBI User Survey 2024

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Gene: SMN2 ENSG00000205571

Summary