Canonical Allele Identifier: CA3051771973

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165367228_165367229insCTT , CM000664.2:g.165367228_165367229insCTT	GRCh38
NC_000002.11:g.166223738_166223739insCTT , CM000664.1:g.166223738_166223739insCTT	GRCh37
NC_000002.10:g.165931984_165931985insCTT	NCBI36
NG_008143.1:g.132827_132828insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3532_3533insCTT MANE Plus Clinical	ENSP00000486885.1:p.Lys1178ThrfsTer2
ENST00000375437.7:c.3532_3533insCTT MANE Select	ENSP00000364586.2:p.Lys1178ThrfsTer2
ENST00000636071.2:c.3532_3533insCTT	ENSP00000490107.1:p.Lys1178ThrfsTer2
ENST00000636135.1:c.*1851_*1852insCTT	ENSP00000489821.1:n.*1851_*1852insCTT
ENST00000636384.2:c.*1519_*1520insCTT	ENSP00000490765.1:n.*1519_*1520insCTT
ENST00000636662.2:c.*4055_*4056insCTT	ENSP00000489873.1:n.*4055_*4056insCTT
ENST00000636769.1:c.*1474_*1475insCTT	ENSP00000490800.1:n.*1474_*1475insCTT
ENST00000636985.2:c.3136_3137insCTT	ENSP00000490849.1:p.Lys1046ThrfsTer2
ENST00000637266.2:c.3532_3533insCTT	ENSP00000490866.1:p.Lys1178ThrfsTer2
ENST00000283256.10:c.3532_3533insCTT	ENSP00000283256.6:p.Lys1178ThrfsTer2
ENST00000375427.4:c.3532_3533insCTT	ENSP00000364576.2:p.Lys1178ThrfsTer2
ENST00000375437.6:c.3532_3533insCTT	ENSP00000364586.2:p.Lys1178ThrfsTer2
ENST00000480032.4:n.3675_3676insCTT
ENST00000631182.2:c.3532_3533insCTT	ENSP00000486885.1:p.Lys1178ThrfsTer2
NM_001040142.1:c.3532_3533insCTT	NP_001035232.1:p.Lys1178ThrfsTer2
NM_001040143.1:c.3532_3533insCTT	NP_001035233.1:p.Lys1178ThrfsTer2
NM_021007.2:c.3532_3533insCTT	NP_066287.2:p.Lys1178ThrfsTer2
XM_005246750.2:c.3532_3533insCTT	XP_005246807.1:p.Lys1178ThrfsTer2
XM_005246753.2:c.3532_3533insCTT	XP_005246810.1:p.Lys1178ThrfsTer2
XM_005246754.3:c.3502_3503insCTT	XP_005246811.1:p.Lys1168ThrfsTer2
XM_005246755.3:c.2779_2780insCTT	XP_005246812.1:p.Lys927ThrfsTer2
XM_011511608.1:c.3532_3533insCTT	XP_011509910.1:p.Lys1178ThrfsTer2
XM_011511609.1:c.3532_3533insCTT	XP_011509911.1:p.Lys1178ThrfsTer2
XM_005246753.3:c.3532_3533insCTT	XP_005246810.1:p.Lys1178ThrfsTer2
XM_017004656.1:c.3532_3533insCTT	XP_016860145.1:p.Lys1178ThrfsTer2
XM_017004657.1:c.3532_3533insCTT	XP_016860146.1:p.Lys1178ThrfsTer2
XM_017004658.1:c.2779_2780insCTT	XP_016860147.1:p.Lys927ThrfsTer2
XM_017004659.1:c.1330_1331insCTT	XP_016860148.1:p.Lys444ThrfsTer2
XM_024453037.1:c.2779_2780insCTT	XP_024308805.1:p.Lys927ThrfsTer2
NM_001040142.2:c.3532_3533insCTT MANE Select	NP_001035232.1:p.Lys1178ThrfsTer2
NM_001040143.2:c.3532_3533insCTT	NP_001035233.1:p.Lys1178ThrfsTer2
NM_001371246.1:c.3532_3533insCTT MANE Plus Clinical	NP_001358175.1:p.Lys1178ThrfsTer2
NM_001371247.1:c.3532_3533insCTT	NP_001358176.1:p.Lys1178ThrfsTer2
NM_021007.3:c.3532_3533insCTT	NP_066287.2:p.Lys1178ThrfsTer2