Canonical Allele Identifier: CA2661736847

Gene: SCN2A

Linked Data

• gnomAD v4: 2-165310713-A-ATTTAATACATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310723_165310724insGTTTTAATACAT , CM000664.2:g.165310723_165310724insGTTTTAATACAT	GRCh38
NC_000002.11:g.166167233_166167234insGTTTTAATACAT , CM000664.1:g.166167233_166167234insGTTTTAATACAT	GRCh37
NC_000002.10:g.165875479_165875480insGTTTTAATACAT	NCBI36
NG_008143.1:g.76322_76323insGTTTTAATACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.970+128_970+129insGTTTTAATACAT MANE Plus Clinical	ENSP00000486885.1:n.970+128_970+129insGTTTTAATACAT
ENST00000375437.7:c.970+128_970+129insGTTTTAATACAT MANE Select	ENSP00000364586.2:n.970+128_970+129insGTTTTAATACAT
ENST00000635945.1:n.1333+128_1333+129insGTTTTAATACAT
ENST00000636071.2:c.970+128_970+129insGTTTTAATACAT	ENSP00000490107.1:n.970+128_970+129insGTTTTAATACAT
ENST00000636135.1:c.841+128_841+129insGTTTTAATACAT	ENSP00000489821.1:n.841+128_841+129insGTTTTAATACAT
ENST00000636384.2:c.970+128_970+129insGTTTTAATACAT	ENSP00000490765.1:n.970+128_970+129insGTTTTAATACAT
ENST00000636662.2:c.*1493+128_*1493+129insGTTTTAATACAT	ENSP00000489873.1:n.*1493+128_*1493+129insGTTTTAATACAT
ENST00000636769.1:c.970+128_970+129insGTTTTAATACAT	ENSP00000490800.1:n.970+128_970+129insGTTTTAATACAT
ENST00000636985.2:c.574+128_574+129insGTTTTAATACAT	ENSP00000490849.1:n.574+128_574+129insGTTTTAATACAT
ENST00000637266.2:c.970+128_970+129insGTTTTAATACAT	ENSP00000490866.1:n.970+128_970+129insGTTTTAATACAT
ENST00000637367.1:c.*903+128_*903+129insGTTTTAATACAT	ENSP00000490592.1:n.*903+128_*903+129insGTTTTAATACAT
ENST00000638151.1:n.1054+128_1054+129insGTTTTAATACAT
ENST00000283256.10:c.970+128_970+129insGTTTTAATACAT	ENSP00000283256.6:n.970+128_970+129insGTTTTAATACAT
ENST00000375427.4:c.970+128_970+129insGTTTTAATACAT	ENSP00000364576.2:n.970+128_970+129insGTTTTAATACAT
ENST00000375437.6:c.970+128_970+129insGTTTTAATACAT	ENSP00000364586.2:n.970+128_970+129insGTTTTAATACAT
ENST00000424833.5:c.970+128_970+129insGTTTTAATACAT	ENSP00000406454.2:n.970+128_970+129insGTTTTAATACAT
ENST00000480032.4:n.1113+128_1113+129insGTTTTAATACAT
ENST00000486878.2:c.639_640insGTTTTAATACAT	ENSP00000487466.1:n.639_640insGTTTTAATACAT
ENST00000631182.2:c.970+128_970+129insGTTTTAATACAT	ENSP00000486885.1:n.970+128_970+129insGTTTTAATACAT
NM_001040142.1:c.970+128_970+129insGTTTTAATACAT	NP_001035232.1:n.970+128_970+129insGTTTTAATACAT
NM_001040143.1:c.970+128_970+129insGTTTTAATACAT	NP_001035233.1:n.970+128_970+129insGTTTTAATACAT
NM_021007.2:c.970+128_970+129insGTTTTAATACAT	NP_066287.2:n.970+128_970+129insGTTTTAATACAT
XM_005246750.2:c.970+128_970+129insGTTTTAATACAT	XP_005246807.1:n.970+128_970+129insGTTTTAATACAT
XM_005246753.2:c.970+128_970+129insGTTTTAATACAT	XP_005246810.1:n.970+128_970+129insGTTTTAATACAT
XM_005246754.3:c.940+128_940+129insGTTTTAATACAT	XP_005246811.1:n.940+128_940+129insGTTTTAATACAT
XM_005246755.3:c.217+128_217+129insGTTTTAATACAT	XP_005246812.1:n.217+128_217+129insGTTTTAATACAT
XM_011511608.1:c.970+128_970+129insGTTTTAATACAT	XP_011509910.1:n.970+128_970+129insGTTTTAATACAT
XM_011511609.1:c.970+128_970+129insGTTTTAATACAT	XP_011509911.1:n.970+128_970+129insGTTTTAATACAT
XM_005246753.3:c.970+128_970+129insGTTTTAATACAT	XP_005246810.1:n.970+128_970+129insGTTTTAATACAT
XM_017004656.1:c.970+128_970+129insGTTTTAATACAT	XP_016860145.1:n.970+128_970+129insGTTTTAATACAT
XM_017004657.1:c.970+128_970+129insGTTTTAATACAT	XP_016860146.1:n.970+128_970+129insGTTTTAATACAT
XM_017004658.1:c.217+128_217+129insGTTTTAATACAT	XP_016860147.1:n.217+128_217+129insGTTTTAATACAT
XM_024453037.1:c.217+128_217+129insGTTTTAATACAT	XP_024308805.1:n.217+128_217+129insGTTTTAATACAT
NM_001040142.2:c.970+128_970+129insGTTTTAATACAT MANE Select	NP_001035232.1:n.970+128_970+129insGTTTTAATACAT
NM_001040143.2:c.970+128_970+129insGTTTTAATACAT	NP_001035233.1:n.970+128_970+129insGTTTTAATACAT
NM_001371246.1:c.970+128_970+129insGTTTTAATACAT MANE Plus Clinical	NP_001358175.1:n.970+128_970+129insGTTTTAATACAT
NM_001371247.1:c.970+128_970+129insGTTTTAATACAT	NP_001358176.1:n.970+128_970+129insGTTTTAATACAT
NM_021007.3:c.970+128_970+129insGTTTTAATACAT	NP_066287.2:n.970+128_970+129insGTTTTAATACAT