Gene: SCN2A ENSG00000136531

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: 166,095,912-166,248,818 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 7 transcripts (splice variants), 16 paralogues and is associated with 13 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000357398.3	SCN2A-201	8792	2005aa	ENSP00000349973.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33313	F8T7W7 Q99250	-	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,
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,
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		-	-	-

EMBL-EBI User Survey 2024

Gene: SCN2A ENSG00000136531

Summary

EMBL-EBI User Survey 2024

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Gene: SCN2A ENSG00000136531

Summary