Transcript: ENST00000511873.2 SMN2-012

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: 69,362,911-69,366,481 forward strand.

About this transcript

This transcript has 5 exons, is annotated with 4 domains and features, is associated with 372 variant alleles and maps to 329 oligo probes.

Gene

This transcript is a product of gene ENSG00000205571.8 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
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,
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	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		-	-	-

Summary

Statistics

Exons: 5, Coding exons: 3, Transcript length: 431 bps, Translation length: 79 residues

Incomplete CDS

5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete

Version

ENST00000511873.2

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000369083 (version 2)

Favourite species

All species

Recent locations

Transcript: ENST00000511873.2 SMN2-012

Summary