Canonical Allele Identifier: CA1304556544

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165370083_165370084delinsCT , CM000664.2:g.165370083_165370084delinsCT	GRCh38
NC_000002.11:g.166226593_166226594delinsCT , CM000664.1:g.166226593_166226594delinsCT	GRCh37
NC_000002.10:g.165934839_165934840delinsCT	NCBI36
NG_008143.1:g.135682_135683delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3676-43_3676-42delinsCT MANE Plus Clinical	ENSP00000486885.1:n.3676-43_3676-42delinsCT
ENST00000375437.7:c.3676-43_3676-42delinsCT MANE Select	ENSP00000364586.2:n.3676-43_3676-42delinsCT
ENST00000636071.2:c.3676-43_3676-42delinsCT	ENSP00000490107.1:n.3676-43_3676-42delinsCT
ENST00000636135.1:c.*1995-43_*1995-42delinsCT	ENSP00000489821.1:n.*1995-43_*1995-42delinsCT
ENST00000636384.2:c.*1663-43_*1663-42delinsCT	ENSP00000490765.1:n.*1663-43_*1663-42delinsCT
ENST00000636662.2:c.*4199-43_*4199-42delinsCT	ENSP00000489873.1:n.*4199-43_*4199-42delinsCT
ENST00000636769.1:c.*1618-43_*1618-42delinsCT	ENSP00000490800.1:n.*1618-43_*1618-42delinsCT
ENST00000636985.2:c.3280-43_3280-42delinsCT	ENSP00000490849.1:n.3280-43_3280-42delinsCT
ENST00000637266.2:c.3676-43_3676-42delinsCT	ENSP00000490866.1:n.3676-43_3676-42delinsCT
ENST00000283256.10:c.3676-43_3676-42delinsCT	ENSP00000283256.6:n.3676-43_3676-42delinsCT
ENST00000375427.4:c.3676-43_3676-42delinsCT	ENSP00000364576.2:n.3676-43_3676-42delinsCT
ENST00000375437.6:c.3676-43_3676-42delinsCT	ENSP00000364586.2:n.3676-43_3676-42delinsCT
ENST00000480032.4:n.3819-43_3819-42delinsCT
ENST00000631182.2:c.3676-43_3676-42delinsCT	ENSP00000486885.1:n.3676-43_3676-42delinsCT
NM_001040142.1:c.3676-43_3676-42delinsCT	NP_001035232.1:n.3676-43_3676-42delinsCT
NM_001040143.1:c.3676-43_3676-42delinsCT	NP_001035233.1:n.3676-43_3676-42delinsCT
NM_021007.2:c.3676-43_3676-42delinsCT	NP_066287.2:n.3676-43_3676-42delinsCT
XM_005246750.2:c.3676-43_3676-42delinsCT	XP_005246807.1:n.3676-43_3676-42delinsCT
XM_005246753.2:c.3676-43_3676-42delinsCT	XP_005246810.1:n.3676-43_3676-42delinsCT
XM_005246754.3:c.3646-43_3646-42delinsCT	XP_005246811.1:n.3646-43_3646-42delinsCT
XM_005246755.3:c.2923-43_2923-42delinsCT	XP_005246812.1:n.2923-43_2923-42delinsCT
XM_011511608.1:c.3676-43_3676-42delinsCT	XP_011509910.1:n.3676-43_3676-42delinsCT
XM_011511609.1:c.3676-43_3676-42delinsCT	XP_011509911.1:n.3676-43_3676-42delinsCT
XM_005246753.3:c.3676-43_3676-42delinsCT	XP_005246810.1:n.3676-43_3676-42delinsCT
XM_017004656.1:c.3676-43_3676-42delinsCT	XP_016860145.1:n.3676-43_3676-42delinsCT
XM_017004657.1:c.3676-43_3676-42delinsCT	XP_016860146.1:n.3676-43_3676-42delinsCT
XM_017004658.1:c.2923-43_2923-42delinsCT	XP_016860147.1:n.2923-43_2923-42delinsCT
XM_017004659.1:c.1474-43_1474-42delinsCT	XP_016860148.1:n.1474-43_1474-42delinsCT
XM_024453037.1:c.2923-43_2923-42delinsCT	XP_024308805.1:n.2923-43_2923-42delinsCT
NM_001040142.2:c.3676-43_3676-42delinsCT MANE Select	NP_001035232.1:n.3676-43_3676-42delinsCT
NM_001040143.2:c.3676-43_3676-42delinsCT	NP_001035233.1:n.3676-43_3676-42delinsCT
NM_001371246.1:c.3676-43_3676-42delinsCT MANE Plus Clinical	NP_001358175.1:n.3676-43_3676-42delinsCT
NM_001371247.1:c.3676-43_3676-42delinsCT	NP_001358176.1:n.3676-43_3676-42delinsCT
NM_021007.3:c.3676-43_3676-42delinsCT	NP_066287.2:n.3676-43_3676-42delinsCT