Canonical Allele Identifier: CA2572265104

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165309354_165309356del , CM000664.2:g.165309354_165309356del	GRCh38
NC_000002.11:g.166165864_166165866del , CM000664.1:g.166165864_166165866del	GRCh37
NC_000002.10:g.165874110_165874112del	NCBI36
NG_008143.1:g.74953_74955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.697+98_697+100del MANE Plus Clinical	ENSP00000486885.1:n.697+98_697+100del
ENST00000375437.7:c.608_610del MANE Select	ENSP00000364586.2:p.Tyr203_Val204delinsLeu
ENST00000635945.1:n.971_973del
ENST00000636071.2:c.697+98_697+100del	ENSP00000490107.1:n.697+98_697+100del
ENST00000636135.1:c.479_481del	ENSP00000489821.1:p.Tyr160_Val161delinsLeu
ENST00000636384.2:c.608_610del	ENSP00000490765.1:p.Tyr203_Val204delinsLeu
ENST00000636662.2:c.*1131_*1133del	ENSP00000489873.1:n.*1131_*1133del
ENST00000636769.1:c.608_610del	ENSP00000490800.1:p.Tyr203_Val204delinsLeu
ENST00000636985.2:c.212_214del	ENSP00000490849.1:p.Tyr71_Val72delinsLeu
ENST00000637266.2:c.608_610del	ENSP00000490866.1:p.Tyr203_Val204delinsLeu
ENST00000637367.1:c.*541_*543del	ENSP00000490592.1:n.*541_*543del
ENST00000638151.1:n.692_694del
ENST00000283256.10:c.608_610del	ENSP00000283256.6:p.Tyr203_Val204delinsLeu
ENST00000375427.4:c.697+98_697+100del	ENSP00000364576.2:n.697+98_697+100del
ENST00000375437.6:c.608_610del	ENSP00000364586.2:p.Tyr203_Val204delinsLeu
ENST00000424833.5:c.608_610del	ENSP00000406454.2:p.Tyr203_Val204delinsLeu
ENST00000480032.4:n.751_753del
ENST00000486878.2:c.149_151del	ENSP00000487466.1:p.Tyr50_Val51delinsLeu
ENST00000631182.2:c.697+98_697+100del	ENSP00000486885.1:n.697+98_697+100del
NM_001040142.1:c.608_610del	NP_001035232.1:p.Tyr203_Val204delinsLeu
NM_001040143.1:c.697+98_697+100del	NP_001035233.1:n.697+98_697+100del
NM_021007.2:c.608_610del	NP_066287.2:p.Tyr203_Val204delinsLeu
XM_005246750.2:c.608_610del	XP_005246807.1:p.Tyr203_Val204delinsLeu
XM_005246753.2:c.697+98_697+100del	XP_005246810.1:n.697+98_697+100del
XM_005246754.3:c.578_580del	XP_005246811.1:p.Tyr193_Val194delinsLeu
XM_005246755.3:c.-57+560_-57+562del	XP_005246812.1:n.-57+560_-57+562del
XM_011511608.1:c.608_610del	XP_011509910.1:p.Tyr203_Val204delinsLeu
XM_011511609.1:c.608_610del	XP_011509911.1:p.Tyr203_Val204delinsLeu
XM_005246753.3:c.697+98_697+100del	XP_005246810.1:n.697+98_697+100del
XM_017004656.1:c.608_610del	XP_016860145.1:p.Tyr203_Val204delinsLeu
XM_017004657.1:c.697+98_697+100del	XP_016860146.1:n.697+98_697+100del
XM_017004658.1:c.-146_-144del	XP_016860147.1:n.-146_-144del
XM_024453037.1:c.-57+560_-57+562del	XP_024308805.1:n.-57+560_-57+562del
NM_001040142.2:c.608_610del MANE Select	NP_001035232.1:p.Tyr203_Val204delinsLeu
NM_001040143.2:c.697+98_697+100del	NP_001035233.1:n.697+98_697+100del
NM_001371246.1:c.697+98_697+100del MANE Plus Clinical	NP_001358175.1:n.697+98_697+100del
NM_001371247.1:c.608_610del	NP_001358176.1:p.Tyr203_Val204delinsLeu
NM_021007.3:c.608_610del	NP_066287.2:p.Tyr203_Val204delinsLeu