Canonical Allele Identifier: CA2573130278

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1699078
• ClinVar RCV Id: RCV002272935
• dbSNP Id: rs2105398203

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386773_165386796del , CM000664.2:g.165386773_165386796del	GRCh38
NC_000002.11:g.166243283_166243306del , CM000664.1:g.166243283_166243306del	GRCh37
NC_000002.10:g.165951529_165951552del	NCBI36
NG_008143.1:g.152372_152395del

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.4579_4602del MANE Plus Clinical	ENSP00000486885.1:p.Phe1527_Asp1534del
ENST00000375437.7:c.4579_4602del MANE Select	ENSP00000364586.2:p.Phe1527_Asp1534del
ENST00000636071.2:c.4579_4602del	ENSP00000490107.1:p.Phe1527_Asp1534del
ENST00000636135.1:c.*2898_*2921del	ENSP00000489821.1:n.*2898_*2921del
ENST00000636384.2:c.*2566_*2589del	ENSP00000490765.1:n.*2566_*2589del
ENST00000636662.2:c.*5102_*5125del	ENSP00000489873.1:n.*5102_*5125del
ENST00000636769.1:c.*2521_*2544del	ENSP00000490800.1:n.*2521_*2544del
ENST00000636985.2:c.4183_4206del	ENSP00000490849.1:p.Phe1395_Asp1402del
ENST00000637266.2:c.4579_4602del	ENSP00000490866.1:p.Phe1527_Asp1534del
ENST00000283256.10:c.4579_4602del	ENSP00000283256.6:p.Phe1527_Asp1534del
ENST00000375427.4:c.4579_4602del	ENSP00000364576.2:p.Phe1527_Asp1534del
ENST00000375437.6:c.4579_4602del	ENSP00000364586.2:p.Phe1527_Asp1534del
ENST00000480032.4:n.8010_8033del
ENST00000631182.2:c.4579_4602del	ENSP00000486885.1:p.Phe1527_Asp1534del
NM_001040142.1:c.4579_4602del	NP_001035232.1:p.Phe1527_Asp1534del
NM_001040143.1:c.4579_4602del	NP_001035233.1:p.Phe1527_Asp1534del
NM_021007.2:c.4579_4602del	NP_066287.2:p.Phe1527_Asp1534del
XM_005246750.2:c.4579_4602del	XP_005246807.1:p.Phe1527_Asp1534del
XM_005246753.2:c.4579_4602del	XP_005246810.1:p.Phe1527_Asp1534del
XM_005246754.3:c.4549_4572del	XP_005246811.1:p.Phe1517_Asp1524del
XM_005246755.3:c.3826_3849del	XP_005246812.1:p.Phe1276_Asp1283del
XM_011511608.1:c.4579_4602del	XP_011509910.1:p.Phe1527_Asp1534del
XM_011511609.1:c.4579_4602del	XP_011509911.1:p.Phe1527_Asp1534del
XM_005246753.3:c.4579_4602del	XP_005246810.1:p.Phe1527_Asp1534del
XM_017004656.1:c.4579_4602del	XP_016860145.1:p.Phe1527_Asp1534del
XM_017004657.1:c.4579_4602del	XP_016860146.1:p.Phe1527_Asp1534del
XM_017004658.1:c.3826_3849del	XP_016860147.1:p.Phe1276_Asp1283del
XM_017004659.1:c.2377_2400del	XP_016860148.1:p.Phe793_Asp800del
XM_024453037.1:c.3826_3849del	XP_024308805.1:p.Phe1276_Asp1283del
NM_001040142.2:c.4579_4602del MANE Select	NP_001035232.1:p.Phe1527_Asp1534del
NM_001040143.2:c.4579_4602del	NP_001035233.1:p.Phe1527_Asp1534del
NM_001371246.1:c.4579_4602del MANE Plus Clinical	NP_001358175.1:p.Phe1527_Asp1534del
NM_001371247.1:c.4579_4602del	NP_001358176.1:p.Phe1527_Asp1534del
NM_021007.3:c.4579_4602del	NP_066287.2:p.Phe1527_Asp1534del