Canonical Allele Identifier: CA2571014156

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165370248_165370249insTCG , CM000664.2:g.165370248_165370249insTCG	GRCh38
NC_000002.11:g.166226758_166226759insTCG , CM000664.1:g.166226758_166226759insTCG	GRCh37
NC_000002.10:g.165935004_165935005insTCG	NCBI36
NG_008143.1:g.135847_135848insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3798_3799insTCG MANE Plus Clinical	ENSP00000486885.1:p.Phe1266_Gln1267insSer
ENST00000375437.7:c.3798_3799insTCG MANE Select	ENSP00000364586.2:p.Phe1266_Gln1267insSer
ENST00000636071.2:c.3798_3799insTCG	ENSP00000490107.1:p.Phe1266_Gln1267insSer
ENST00000636135.1:c.*2117_*2118insTCG	ENSP00000489821.1:n.*2117_*2118insTCG
ENST00000636384.2:c.*1785_*1786insTCG	ENSP00000490765.1:n.*1785_*1786insTCG
ENST00000636662.2:c.*4321_*4322insTCG	ENSP00000489873.1:n.*4321_*4322insTCG
ENST00000636769.1:c.*1740_*1741insTCG	ENSP00000490800.1:n.*1740_*1741insTCG
ENST00000636985.2:c.3402_3403insTCG	ENSP00000490849.1:p.Phe1134_Gln1135insSer
ENST00000637266.2:c.3798_3799insTCG	ENSP00000490866.1:p.Phe1266_Gln1267insSer
ENST00000283256.10:c.3798_3799insTCG	ENSP00000283256.6:p.Phe1266_Gln1267insSer
ENST00000375427.4:c.3798_3799insTCG	ENSP00000364576.2:p.Phe1266_Gln1267insSer
ENST00000375437.6:c.3798_3799insTCG	ENSP00000364586.2:p.Phe1266_Gln1267insSer
ENST00000480032.4:n.3941_3942insTCG
ENST00000631182.2:c.3798_3799insTCG	ENSP00000486885.1:p.Phe1266_Gln1267insSer
NM_001040142.1:c.3798_3799insTCG	NP_001035232.1:p.Phe1266_Gln1267insSer
NM_001040143.1:c.3798_3799insTCG	NP_001035233.1:p.Phe1266_Gln1267insSer
NM_021007.2:c.3798_3799insTCG	NP_066287.2:p.Phe1266_Gln1267insSer
XM_005246750.2:c.3798_3799insTCG	XP_005246807.1:p.Phe1266_Gln1267insSer
XM_005246753.2:c.3798_3799insTCG	XP_005246810.1:p.Phe1266_Gln1267insSer
XM_005246754.3:c.3768_3769insTCG	XP_005246811.1:p.Phe1256_Gln1257insSer
XM_005246755.3:c.3045_3046insTCG	XP_005246812.1:p.Phe1015_Gln1016insSer
XM_011511608.1:c.3798_3799insTCG	XP_011509910.1:p.Phe1266_Gln1267insSer
XM_011511609.1:c.3798_3799insTCG	XP_011509911.1:p.Phe1266_Gln1267insSer
XM_005246753.3:c.3798_3799insTCG	XP_005246810.1:p.Phe1266_Gln1267insSer
XM_017004656.1:c.3798_3799insTCG	XP_016860145.1:p.Phe1266_Gln1267insSer
XM_017004657.1:c.3798_3799insTCG	XP_016860146.1:p.Phe1266_Gln1267insSer
XM_017004658.1:c.3045_3046insTCG	XP_016860147.1:p.Phe1015_Gln1016insSer
XM_017004659.1:c.1596_1597insTCG	XP_016860148.1:p.Phe532_Gln533insSer
XM_024453037.1:c.3045_3046insTCG	XP_024308805.1:p.Phe1015_Gln1016insSer
NM_001040142.2:c.3798_3799insTCG MANE Select	NP_001035232.1:p.Phe1266_Gln1267insSer
NM_001040143.2:c.3798_3799insTCG	NP_001035233.1:p.Phe1266_Gln1267insSer
NM_001371246.1:c.3798_3799insTCG MANE Plus Clinical	NP_001358175.1:p.Phe1266_Gln1267insSer
NM_001371247.1:c.3798_3799insTCG	NP_001358176.1:p.Phe1266_Gln1267insSer
NM_021007.3:c.3798_3799insTCG	NP_066287.2:p.Phe1266_Gln1267insSer