Canonical Allele Identifier: CA1304564701

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165388625_165388626delinsAC , CM000664.2:g.165388625_165388626delinsAC	GRCh38
NC_000002.11:g.166245135_166245136delinsAC , CM000664.1:g.166245135_166245136delinsAC	GRCh37
NC_000002.10:g.165953381_165953382delinsAC	NCBI36
NG_008143.1:g.154224_154225delinsAC

Transcript Alleles

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