sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
Chromosome 2: 166,095,912-166,248,818 forward strand.
GRCh37:CM000664.1
This gene has 7 transcripts (splice variants), 16 paralogues and is associated with 13 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000357398.3 | SCN2A-201 | 8792 | 2005aa | ENSP00000349973.3 | Protein coding | CCDS33313 | F8T7W7 Q99250 | - | Ensembl Canonical, GENCODE basic, |
ENST00000375437.2 | SCN2A-202 | 8792 | 2005aa | ENSP00000364586.2 | Protein coding | CCDS33314 | A8K0U1 F8T7W7 Q99250 | NM_001040142.1 | GENCODE basic, |
ENST00000283256.6 | SCN2A-001 | 8403 | 2005aa | ENSP00000283256.6 | Protein coding | CCDS33314 | A8K0U1 F8T7W7 Q99250 | NM_021007.2 | GENCODE basic, |
ENST00000375427.2 | SCN2A-002 | 6274 | 2005aa | ENSP00000364576.2 | Protein coding | CCDS33313 | F8T7W7 Q99250 | NM_001040143.1 | GENCODE basic, |
ENST00000424833.1 | SCN2A-003 | 1801 | 503aa | ENSP00000406454.1 | Protein coding | A8K0U1 F8T7W7 | - | CDS 3' incomplete, | |
ENST00000480032.1 | SCN2A-005 | 7788 | No protein | - | Retained intron | - | - | - | |
ENST00000486878.1 | SCN2A-004 | 644 | No protein | - | Retained intron | - | - | - |