Canonical Allele Identifier: CA1304564688

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165388606_165388607delinsTG , CM000664.2:g.165388606_165388607delinsTG	GRCh38
NC_000002.11:g.166245116_166245117delinsTG , CM000664.1:g.166245116_166245117delinsTG	GRCh37
NC_000002.10:g.165953362_165953363delinsTG	NCBI36
NG_008143.1:g.154205_154206delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.4823-23_4823-22delinsTG MANE Plus Clinical	ENSP00000486885.1:n.4823-23_4823-22delins...
ENST00000375437.7:c.4823-23_4823-22delinsTG MANE Select	ENSP00000364586.2:n.4823-23_4823-22delins...
ENST00000636071.2:c.4823-23_4823-22delinsTG	ENSP00000490107.1:n.4823-23_4823-22delins...
ENST00000636135.1:c.*3142-23_*3142-22delinsTG	ENSP00000489821.1:n.*3142-23_*3142-22deli...
ENST00000636384.2:c.*2810-23_*2810-22delinsTG	ENSP00000490765.1:n.*2810-23_*2810-22deli...
ENST00000636662.2:c.*5346-23_*5346-22delinsTG	ENSP00000489873.1:n.*5346-23_*5346-22deli...
ENST00000636769.1:c.*2765-23_*2765-22delinsTG	ENSP00000490800.1:n.*2765-23_*2765-22deli...
ENST00000636985.2:c.4427-23_4427-22delinsTG	ENSP00000490849.1:n.4427-23_4427-22delins...
ENST00000637266.2:c.4823-23_4823-22delinsTG	ENSP00000490866.1:n.4823-23_4823-22delins...
ENST00000283256.10:c.4823-23_4823-22delinsTG	ENSP00000283256.6:n.4823-23_4823-22delins...
ENST00000375427.4:c.4823-23_4823-22delinsTG	ENSP00000364576.2:n.4823-23_4823-22delins...
ENST00000375437.6:c.4823-23_4823-22delinsTG	ENSP00000364586.2:n.4823-23_4823-22delins...
ENST00000480032.4:n.8254-23_8254-22delinsTG
ENST00000631182.2:c.4823-23_4823-22delinsTG	ENSP00000486885.1:n.4823-23_4823-22delins...
NM_001040142.1:c.4823-23_4823-22delinsTG	NP_001035232.1:n.4823-23_4823-22delinsTG
NM_001040143.1:c.4823-23_4823-22delinsTG	NP_001035233.1:n.4823-23_4823-22delinsTG
NM_021007.2:c.4823-23_4823-22delinsTG	NP_066287.2:n.4823-23_4823-22delinsTG
XM_005246750.2:c.4823-23_4823-22delinsTG	XP_005246807.1:n.4823-23_4823-22delinsTG
XM_005246753.2:c.4823-23_4823-22delinsTG	XP_005246810.1:n.4823-23_4823-22delinsTG
XM_005246754.3:c.4793-23_4793-22delinsTG	XP_005246811.1:n.4793-23_4793-22delinsTG
XM_005246755.3:c.4070-23_4070-22delinsTG	XP_005246812.1:n.4070-23_4070-22delinsTG
XM_011511608.1:c.4823-23_4823-22delinsTG	XP_011509910.1:n.4823-23_4823-22delinsTG
XM_011511609.1:c.4823-23_4823-22delinsTG	XP_011509911.1:n.4823-23_4823-22delinsTG
XM_005246753.3:c.4823-23_4823-22delinsTG	XP_005246810.1:n.4823-23_4823-22delinsTG
XM_017004656.1:c.4823-23_4823-22delinsTG	XP_016860145.1:n.4823-23_4823-22delinsTG
XM_017004657.1:c.4823-23_4823-22delinsTG	XP_016860146.1:n.4823-23_4823-22delinsTG
XM_017004658.1:c.4070-23_4070-22delinsTG	XP_016860147.1:n.4070-23_4070-22delinsTG
XM_017004659.1:c.2621-23_2621-22delinsTG	XP_016860148.1:n.2621-23_2621-22delinsTG
XM_024453037.1:c.4070-23_4070-22delinsTG	XP_024308805.1:n.4070-23_4070-22delinsTG
NM_001040142.2:c.4823-23_4823-22delinsTG MANE Select	NP_001035232.1:n.4823-23_4823-22delinsTG
NM_001040143.2:c.4823-23_4823-22delinsTG	NP_001035233.1:n.4823-23_4823-22delinsTG
NM_001371246.1:c.4823-23_4823-22delinsTG MANE Plus Clinical	NP_001358175.1:n.4823-23_4823-22delinsTG
NM_001371247.1:c.4823-23_4823-22delinsTG	NP_001358176.1:n.4823-23_4823-22delinsTG
NM_021007.3:c.4823-23_4823-22delinsTG	NP_066287.2:n.4823-23_4823-22delinsTG