Transcript: ENST00000480032.1 SCN2A-005

Description

sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]

Gene Synonyms

BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2

Location

Chromosome 2: 166,150,554-166,237,513 forward strand.

About this transcript

This transcript has 23 exons, is associated with 36354 variant alleles and maps to 570 oligo probes.

Gene

This transcript is a product of gene ENSG00000136531.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000375437.2	SCN2A-202	8792	2005aa	ENSP00000364586.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33314	A8K0U1 F8T7W7 Q99250	NM_001040142.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000357398.3	SCN2A-201	8792	2005aa	ENSP00000349973.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33313	F8T7W7 Q99250	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000283256.6	SCN2A-001	8403	2005aa	ENSP00000283256.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33314	A8K0U1 F8T7W7 Q99250	NM_021007.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000375427.2	SCN2A-002	6274	2005aa	ENSP00000364576.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33313	F8T7W7 Q99250	NM_001040143.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000424833.1	SCN2A-003	1801	503aa	ENSP00000406454.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8K0U1 F8T7W7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000480032.1	SCN2A-005	7788	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000486878.1	SCN2A-004	644	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: 23, Coding exons: 0, Transcript length: 7,788 bps,

Version

ENST00000480032.1

Type

Retained intron

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:	OTTHUMT00000333388 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000480032.1 SCN2A-005

Summary