Canonical Allele Identifier: CA2586970193

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386990_165386991del , CM000664.2:g.165386990_165386991del	GRCh38
NC_000002.11:g.166243500_166243501del , CM000664.1:g.166243500_166243501del	GRCh37
NC_000002.10:g.165951746_165951747del	NCBI36
NG_008143.1:g.152589_152590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4796_4797del MANE Plus Clinical	ENSP00000486885.1:p.Phe1599CysfsTer14
ENST00000375437.7:c.4796_4797del MANE Select	ENSP00000364586.2:p.Phe1599CysfsTer14
ENST00000636071.2:c.4796_4797del	ENSP00000490107.1:p.Phe1599CysfsTer14
ENST00000636135.1:c.*3115_*3116del	ENSP00000489821.1:n.*3115_*3116del
ENST00000636384.2:c.*2783_*2784del	ENSP00000490765.1:n.*2783_*2784del
ENST00000636662.2:c.*5319_*5320del	ENSP00000489873.1:n.*5319_*5320del
ENST00000636769.1:c.*2738_*2739del	ENSP00000490800.1:n.*2738_*2739del
ENST00000636985.2:c.4400_4401del	ENSP00000490849.1:p.Phe1467CysfsTer14
ENST00000637266.2:c.4796_4797del	ENSP00000490866.1:p.Phe1599CysfsTer14
ENST00000283256.10:c.4796_4797del	ENSP00000283256.6:p.Phe1599CysfsTer14
ENST00000375427.4:c.4796_4797del	ENSP00000364576.2:p.Phe1599CysfsTer14
ENST00000375437.6:c.4796_4797del	ENSP00000364586.2:p.Phe1599CysfsTer14
ENST00000480032.4:n.8227_8228del
ENST00000631182.2:c.4796_4797del	ENSP00000486885.1:p.Phe1599CysfsTer14
NM_001040142.1:c.4796_4797del	NP_001035232.1:p.Phe1599CysfsTer14
NM_001040143.1:c.4796_4797del	NP_001035233.1:p.Phe1599CysfsTer14
NM_021007.2:c.4796_4797del	NP_066287.2:p.Phe1599CysfsTer14
XM_005246750.2:c.4796_4797del	XP_005246807.1:p.Phe1599CysfsTer14
XM_005246753.2:c.4796_4797del	XP_005246810.1:p.Phe1599CysfsTer14
XM_005246754.3:c.4766_4767del	XP_005246811.1:p.Phe1589CysfsTer14
XM_005246755.3:c.4043_4044del	XP_005246812.1:p.Phe1348CysfsTer14
XM_011511608.1:c.4796_4797del	XP_011509910.1:p.Phe1599CysfsTer14
XM_011511609.1:c.4796_4797del	XP_011509911.1:p.Phe1599CysfsTer14
XM_005246753.3:c.4796_4797del	XP_005246810.1:p.Phe1599CysfsTer14
XM_017004656.1:c.4796_4797del	XP_016860145.1:p.Phe1599CysfsTer14
XM_017004657.1:c.4796_4797del	XP_016860146.1:p.Phe1599CysfsTer14
XM_017004658.1:c.4043_4044del	XP_016860147.1:p.Phe1348CysfsTer14
XM_017004659.1:c.2594_2595del	XP_016860148.1:p.Phe865CysfsTer14
XM_024453037.1:c.4043_4044del	XP_024308805.1:p.Phe1348CysfsTer14
NM_001040142.2:c.4796_4797del MANE Select	NP_001035232.1:p.Phe1599CysfsTer14
NM_001040143.2:c.4796_4797del	NP_001035233.1:p.Phe1599CysfsTer14
NM_001371246.1:c.4796_4797del MANE Plus Clinical	NP_001358175.1:p.Phe1599CysfsTer14
NM_001371247.1:c.4796_4797del	NP_001358176.1:p.Phe1599CysfsTer14
NM_021007.3:c.4796_4797del	NP_066287.2:p.Phe1599CysfsTer14