Canonical Allele Identifier: CA2577142483

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165314127_165314128del , CM000664.2:g.165314127_165314128del	GRCh38
NC_000002.11:g.166170637_166170638del , CM000664.1:g.166170637_166170638del	GRCh37
NC_000002.10:g.165878883_165878884del	NCBI36
NG_008143.1:g.79726_79727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.1383+19_1383+20del MANE Plus Clinical	ENSP00000486885.1:n.1383+19_1383+20del
ENST00000375437.7:c.1383+19_1383+20del MANE Select	ENSP00000364586.2:n.1383+19_1383+20del
ENST00000635945.1:n.1746+19_1746+20del
ENST00000636071.2:c.1383+19_1383+20del	ENSP00000490107.1:n.1383+19_1383+20del
ENST00000636135.1:c.1254+19_1254+20del	ENSP00000489821.1:n.1254+19_1254+20del
ENST00000636384.2:c.1383+19_1383+20del	ENSP00000490765.1:n.1383+19_1383+20del
ENST00000636662.2:c.*1906+19_*1906+20del	ENSP00000489873.1:n.*1906+19_*1906+20del
ENST00000636769.1:c.1383+19_1383+20del	ENSP00000490800.1:n.1383+19_1383+20del
ENST00000636985.2:c.987+19_987+20del	ENSP00000490849.1:n.987+19_987+20del
ENST00000637266.2:c.1383+19_1383+20del	ENSP00000490866.1:n.1383+19_1383+20del
ENST00000637367.1:c.*1316+19_*1316+20del	ENSP00000490592.1:n.*1316+19_*1316+20del
ENST00000638151.1:n.1467+19_1467+20del
ENST00000283256.10:c.1383+19_1383+20del	ENSP00000283256.6:n.1383+19_1383+20del
ENST00000375427.4:c.1383+19_1383+20del	ENSP00000364576.2:n.1383+19_1383+20del
ENST00000375437.6:c.1383+19_1383+20del	ENSP00000364586.2:n.1383+19_1383+20del
ENST00000424833.5:c.1383+19_1383+20del	ENSP00000406454.2:n.1383+19_1383+20del
ENST00000480032.4:n.1526+19_1526+20del
ENST00000631182.2:c.1383+19_1383+20del	ENSP00000486885.1:n.1383+19_1383+20del
NM_001040142.1:c.1383+19_1383+20del	NP_001035232.1:n.1383+19_1383+20del
NM_001040143.1:c.1383+19_1383+20del	NP_001035233.1:n.1383+19_1383+20del
NM_021007.2:c.1383+19_1383+20del	NP_066287.2:n.1383+19_1383+20del
XM_005246750.2:c.1383+19_1383+20del	XP_005246807.1:n.1383+19_1383+20del
XM_005246753.2:c.1383+19_1383+20del	XP_005246810.1:n.1383+19_1383+20del
XM_005246754.3:c.1353+19_1353+20del	XP_005246811.1:n.1353+19_1353+20del
XM_005246755.3:c.630+19_630+20del	XP_005246812.1:n.630+19_630+20del
XM_011511608.1:c.1383+19_1383+20del	XP_011509910.1:n.1383+19_1383+20del
XM_011511609.1:c.1383+19_1383+20del	XP_011509911.1:n.1383+19_1383+20del
XM_005246753.3:c.1383+19_1383+20del	XP_005246810.1:n.1383+19_1383+20del
XM_017004656.1:c.1383+19_1383+20del	XP_016860145.1:n.1383+19_1383+20del
XM_017004657.1:c.1383+19_1383+20del	XP_016860146.1:n.1383+19_1383+20del
XM_017004658.1:c.630+19_630+20del	XP_016860147.1:n.630+19_630+20del
XM_024453037.1:c.630+19_630+20del	XP_024308805.1:n.630+19_630+20del
NM_001040142.2:c.1383+19_1383+20del MANE Select	NP_001035232.1:n.1383+19_1383+20del
NM_001040143.2:c.1383+19_1383+20del	NP_001035233.1:n.1383+19_1383+20del
NM_001371246.1:c.1383+19_1383+20del MANE Plus Clinical	NP_001358175.1:n.1383+19_1383+20del
NM_001371247.1:c.1383+19_1383+20del	NP_001358176.1:n.1383+19_1383+20del
NM_021007.3:c.1383+19_1383+20del	NP_066287.2:n.1383+19_1383+20del