Transcript: ENST00000375427.2 SCN2A-002

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: 166,152,283-166,246,539 forward strand.

About this transcript

This transcript has 26 exons, is annotated with 60 domains and features, is associated with 39825 variant alleles and maps to 689 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: 26, Coding exons: 26, Transcript length: 6,274 bps, Translation length: 2,005 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q99250

CCDS

This transcript is a member of the Human CCDS set: CCDS33313

Version

ENST00000375427.2

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:	OTTHUMT00000102660 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000375427.2 SCN2A-002

Summary