Canonical Allele Identifier: CA2753008273

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165380819_165380820insCACCAAACACACCCAACAC , CM000664.2:g.165380819_165380820insCACCAAACACACCCAACAC	GRCh38
NC_000002.11:g.166237329_166237330insCACCAAACACACCCAACAC , CM000664.1:g.166237329_166237330insCACCAAACACACCCAACAC	GRCh37
NC_000002.10:g.165945575_165945576insCACCAAACACACCCAACAC	NCBI36
NG_008143.1:g.146418_146419insCACCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4446+90_4446+91insCACCAAACACACCCAACAC MANE Plus Clinical	ENSP00000486885.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000375437.7:c.4446+90_4446+91insCACCAAACACACCCAACAC MANE Select	ENSP00000364586.2:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000636071.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000490107.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000636135.1:c.*2765+90_*2765+91insCACCAAACACACCCAACAC	ENSP00000489821.1:n.*2765+90_*2765+91insCACCAAACACACCCAACAC
ENST00000636384.2:c.*2433+90_*2433+91insCACCAAACACACCCAACAC	ENSP00000490765.1:n.*2433+90_*2433+91insCACCAAACACACCCAACAC
ENST00000636662.2:c.*4969+90_*4969+91insCACCAAACACACCCAACAC	ENSP00000489873.1:n.*4969+90_*4969+91insCACCAAACACACCCAACAC
ENST00000636769.1:c.*2388+90_*2388+91insCACCAAACACACCCAACAC	ENSP00000490800.1:n.*2388+90_*2388+91insCACCAAACACACCCAACAC
ENST00000636985.2:c.4050+90_4050+91insCACCAAACACACCCAACAC	ENSP00000490849.1:n.4050+90_4050+91insCACCAAACACACCCAACAC
ENST00000637266.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000490866.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000283256.10:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000283256.6:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000375427.4:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000364576.2:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000375437.6:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000364586.2:n.4446+90_4446+91insCACCAAACACACCCAACAC
ENST00000480032.4:n.7604_7605insCACCAAACACACCCAACAC
ENST00000631182.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	ENSP00000486885.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_001040142.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_001035232.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_001040143.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_001035233.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_021007.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_066287.2:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_005246750.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_005246807.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_005246753.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_005246810.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_005246754.3:c.4416+90_4416+91insCACCAAACACACCCAACAC	XP_005246811.1:n.4416+90_4416+91insCACCAAACACACCCAACAC
XM_005246755.3:c.3693+90_3693+91insCACCAAACACACCCAACAC	XP_005246812.1:n.3693+90_3693+91insCACCAAACACACCCAACAC
XM_011511608.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_011509910.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_011511609.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_011509911.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_005246753.3:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_005246810.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_017004656.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_016860145.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_017004657.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	XP_016860146.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
XM_017004658.1:c.3693+90_3693+91insCACCAAACACACCCAACAC	XP_016860147.1:n.3693+90_3693+91insCACCAAACACACCCAACAC
XM_017004659.1:c.2244+90_2244+91insCACCAAACACACCCAACAC	XP_016860148.1:n.2244+90_2244+91insCACCAAACACACCCAACAC
XM_024453037.1:c.3693+90_3693+91insCACCAAACACACCCAACAC	XP_024308805.1:n.3693+90_3693+91insCACCAAACACACCCAACAC
NM_001040142.2:c.4446+90_4446+91insCACCAAACACACCCAACAC MANE Select	NP_001035232.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_001040143.2:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_001035233.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_001371246.1:c.4446+90_4446+91insCACCAAACACACCCAACAC MANE Plus Clinical	NP_001358175.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_001371247.1:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_001358176.1:n.4446+90_4446+91insCACCAAACACACCCAACAC
NM_021007.3:c.4446+90_4446+91insCACCAAACACACCCAACAC	NP_066287.2:n.4446+90_4446+91insCACCAAACACACCCAACAC