Canonical Allele Identifier: CA2740097952

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 3066121
• ClinVar RCV Id: RCV003991125

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165377637_165377639del , CM000664.2:g.165377637_165377639del	GRCh38
NC_000002.11:g.166234147_166234149del , CM000664.1:g.166234147_166234149del	GRCh37
NC_000002.10:g.165942393_165942395del	NCBI36
NG_008143.1:g.143236_143238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4295_4297del MANE Plus Clinical	ENSP00000486885.1:p.Val1432del
ENST00000375437.7:c.4295_4297del MANE Select	ENSP00000364586.2:p.Val1432del
ENST00000636071.2:c.4295_4297del	ENSP00000490107.1:p.Val1432del
ENST00000636135.1:c.*2614_*2616del	ENSP00000489821.1:n.*2614_*2616del
ENST00000636384.2:c.*2282_*2284del	ENSP00000490765.1:n.*2282_*2284del
ENST00000636662.2:c.*4818_*4820del	ENSP00000489873.1:n.*4818_*4820del
ENST00000636769.1:c.*2237_*2239del	ENSP00000490800.1:n.*2237_*2239del
ENST00000636985.2:c.3899_3901del	ENSP00000490849.1:p.Val1300del
ENST00000637266.2:c.4295_4297del	ENSP00000490866.1:p.Val1432del
ENST00000283256.10:c.4295_4297del	ENSP00000283256.6:p.Val1432del
ENST00000375427.4:c.4295_4297del	ENSP00000364576.2:p.Val1432del
ENST00000375437.6:c.4295_4297del	ENSP00000364586.2:p.Val1432del
ENST00000480032.4:n.7363_7365del
ENST00000631182.2:c.4295_4297del	ENSP00000486885.1:p.Val1432del
NM_001040142.1:c.4295_4297del	NP_001035232.1:p.Val1432del
NM_001040143.1:c.4295_4297del	NP_001035233.1:p.Val1432del
NM_021007.2:c.4295_4297del	NP_066287.2:p.Val1432del
XM_005246750.2:c.4295_4297del	XP_005246807.1:p.Val1432del
XM_005246753.2:c.4295_4297del	XP_005246810.1:p.Val1432del
XM_005246754.3:c.4265_4267del	XP_005246811.1:p.Val1422del
XM_005246755.3:c.3542_3544del	XP_005246812.1:p.Val1181del
XM_011511608.1:c.4295_4297del	XP_011509910.1:p.Val1432del
XM_011511609.1:c.4295_4297del	XP_011509911.1:p.Val1432del
XM_005246753.3:c.4295_4297del	XP_005246810.1:p.Val1432del
XM_017004656.1:c.4295_4297del	XP_016860145.1:p.Val1432del
XM_017004657.1:c.4295_4297del	XP_016860146.1:p.Val1432del
XM_017004658.1:c.3542_3544del	XP_016860147.1:p.Val1181del
XM_017004659.1:c.2093_2095del	XP_016860148.1:p.Val698del
XM_024453037.1:c.3542_3544del	XP_024308805.1:p.Val1181del
NM_001040142.2:c.4295_4297del MANE Select	NP_001035232.1:p.Val1432del
NM_001040143.2:c.4295_4297del	NP_001035233.1:p.Val1432del
NM_001371246.1:c.4295_4297del MANE Plus Clinical	NP_001358175.1:p.Val1432del
NM_001371247.1:c.4295_4297del	NP_001358176.1:p.Val1432del
NM_021007.3:c.4295_4297del	NP_066287.2:p.Val1432del