Canonical Allele Identifier: CA2580614380

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 2001676
• ClinVar RCV Id: RCV002815628 ; RCV003329449

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165314101_165314103del , CM000664.2:g.165314101_165314103del	GRCh38
NC_000002.11:g.166170611_166170613del , CM000664.1:g.166170611_166170613del	GRCh37
NC_000002.10:g.165878857_165878859del	NCBI36
NG_008143.1:g.79700_79702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.1376_1378del MANE Plus Clinical	ENSP00000486885.1:p.Glu459del
ENST00000375437.7:c.1376_1378del MANE Select	ENSP00000364586.2:p.Glu459del
ENST00000635945.1:n.1739_1741del
ENST00000636071.2:c.1376_1378del	ENSP00000490107.1:p.Glu459del
ENST00000636135.1:c.1247_1249del	ENSP00000489821.1:p.Glu416del
ENST00000636384.2:c.1376_1378del	ENSP00000490765.1:p.Glu459del
ENST00000636662.2:c.*1899_*1901del	ENSP00000489873.1:n.*1899_*1901del
ENST00000636769.1:c.1376_1378del	ENSP00000490800.1:p.Glu459del
ENST00000636985.2:c.980_982del	ENSP00000490849.1:p.Glu327del
ENST00000637266.2:c.1376_1378del	ENSP00000490866.1:p.Glu459del
ENST00000637367.1:c.*1309_*1311del	ENSP00000490592.1:n.*1309_*1311del
ENST00000638151.1:n.1460_1462del
ENST00000283256.10:c.1376_1378del	ENSP00000283256.6:p.Glu459del
ENST00000375427.4:c.1376_1378del	ENSP00000364576.2:p.Glu459del
ENST00000375437.6:c.1376_1378del	ENSP00000364586.2:p.Glu459del
ENST00000424833.5:c.1376_1378del	ENSP00000406454.2:p.Glu459del
ENST00000480032.4:n.1519_1521del
ENST00000631182.2:c.1376_1378del	ENSP00000486885.1:p.Glu459del
NM_001040142.1:c.1376_1378del	NP_001035232.1:p.Glu459del
NM_001040143.1:c.1376_1378del	NP_001035233.1:p.Glu459del
NM_021007.2:c.1376_1378del	NP_066287.2:p.Glu459del
XM_005246750.2:c.1376_1378del	XP_005246807.1:p.Glu459del
XM_005246753.2:c.1376_1378del	XP_005246810.1:p.Glu459del
XM_005246754.3:c.1346_1348del	XP_005246811.1:p.Glu449del
XM_005246755.3:c.623_625del	XP_005246812.1:p.Glu208del
XM_011511608.1:c.1376_1378del	XP_011509910.1:p.Glu459del
XM_011511609.1:c.1376_1378del	XP_011509911.1:p.Glu459del
XM_005246753.3:c.1376_1378del	XP_005246810.1:p.Glu459del
XM_017004656.1:c.1376_1378del	XP_016860145.1:p.Glu459del
XM_017004657.1:c.1376_1378del	XP_016860146.1:p.Glu459del
XM_017004658.1:c.623_625del	XP_016860147.1:p.Glu208del
XM_024453037.1:c.623_625del	XP_024308805.1:p.Glu208del
NM_001040142.2:c.1376_1378del MANE Select	NP_001035232.1:p.Glu459del
NM_001040143.2:c.1376_1378del	NP_001035233.1:p.Glu459del
NM_001371246.1:c.1376_1378del MANE Plus Clinical	NP_001358175.1:p.Glu459del
NM_001371247.1:c.1376_1378del	NP_001358176.1:p.Glu459del
NM_021007.3:c.1376_1378del	NP_066287.2:p.Glu459del