Description

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

Synonyms

HBSCI, HBSCII, Nav1.2, SCN2A1, SCN2A2

INSDC coordinates

chromosome:GRCh38:CM000664.2:165239402:165392310:1

About this gene

This gene has 7 transcripts (splice variants), 79 orthologues, 19 paralogues, is a member of 1 Ensembl protein family and is associated with 10 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SCN2A-202ENST0000037543787922005aaENSP00000364586
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33314Q99250 NM_001040142
NP_001035232
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI4APPRIS candidate principal isoform (longest CCDS)
Glossary entry for APPRIS
APPRIS website
SCN2A-001ENST0000028325686602005aaENSP00000283256
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33314Q99250 NM_021007
NP_066287
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI4APPRIS candidate principal isoform (longest CCDS)
Glossary entry for APPRIS
APPRIS website
SCN2A-201ENST0000037542785532005aaENSP00000364576
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33313Q99250 NM_001040143
NP_001035233
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
SCN2A-002ENST0000063118284302005aaENSP00000486885
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33313--GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
SCN2A-003ENST000004248331807505aaENSP00000406454
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A8K0U1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

SCN2A-004ENST00000486878661178aaENSP00000487466
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

SCN2A-005ENST0000048003211676No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays