SCN2A 2:166095912-166248818

Forward strand gene: sodium voltage-gated channel alpha subunit 2

Formerly known as: SCN2A1, SCN2A2

Also known as: ENSG00000136531, Nav1.2, HBSCII, HBSCI

Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Source: UniProt

DECIPHER holds 36 sequence variants in this gene, in 36 open-access patients

Name RefSeq Location Size Type Protein Exons
SCN2A-003 (ENST00000424833)
2:166095912-166172108
76.20 kb protein_coding 503aa 11
SCN2A-202 (ENST00000375437) NM_001040142
2:166095912-166248818
152.91 kb protein_coding 2005aa 27
SCN2A-201 (ENST00000357398)
2:166095912-166248818
152.91 kb canonical protein_coding 2005aa 27
SCN2A-001 (ENST00000283256) NM_021007
2:166150541-166248563
98.02 kb protein_coding 2005aa 27
SCN2A-005 (ENST00000480032)
2:166150554-166237513
86.96 kb retained_intron 23
SCN2A-002 (ENST00000375427) NM_001040143
2:166152283-166246539
94.26 kb protein_coding 2005aa 26
SCN2A-004 (ENST00000486878)
2:166165176-166167255
2.08 kb retained_intron 3