Canonical Allele Identifier: CA1304550146

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165354645_165354646delinsGA , CM000664.2:g.165354645_165354646delinsGA	GRCh38
NC_000002.11:g.166211155_166211156delinsGA , CM000664.1:g.166211155_166211156delinsGA	GRCh37
NC_000002.10:g.165919401_165919402delinsGA	NCBI36
NG_008143.1:g.120244_120245delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.3373_3374delinsGA MANE Plus Clinical	ENSP00000486885.1:p.Glu1125=
ENST00000375437.7:c.3373_3374delinsGA MANE Select	ENSP00000364586.2:p.Glu1125=
ENST00000636071.2:c.3373_3374delinsGA	ENSP00000490107.1:p.Glu1125=
ENST00000636135.1:c.*1692_*1693delinsGA	ENSP00000489821.1:n.*1692_*1693delinsGA
ENST00000636384.2:c.*1360_*1361delinsGA	ENSP00000490765.1:n.*1360_*1361delinsGA
ENST00000636662.2:c.*3896_*3897delinsGA	ENSP00000489873.1:n.*3896_*3897delinsGA
ENST00000636769.1:c.*1315_*1316delinsGA	ENSP00000490800.1:n.*1315_*1316delinsGA
ENST00000636985.2:c.2977_2978delinsGA	ENSP00000490849.1:p.Glu993=
ENST00000637266.2:c.3373_3374delinsGA	ENSP00000490866.1:p.Glu1125=
ENST00000673831.1:c.1119_1120delinsGA	ENSP00000501305.1:n.1119_1120delinsGA
ENST00000673883.1:c.938_939delinsGA	ENSP00000501309.1:n.938_939delinsGA
ENST00000674133.1:c.1224_1225delinsGA
ENST00000283256.10:c.3373_3374delinsGA	ENSP00000283256.6:p.Glu1125=
ENST00000375427.4:c.3373_3374delinsGA	ENSP00000364576.2:p.Glu1125=
ENST00000375437.6:c.3373_3374delinsGA	ENSP00000364586.2:p.Glu1125=
ENST00000480032.4:n.3516_3517delinsGA
ENST00000631182.2:c.3373_3374delinsGA	ENSP00000486885.1:p.Glu1125=
NM_001040142.1:c.3373_3374delinsGA	NP_001035232.1:p.Glu1125=
NM_001040143.1:c.3373_3374delinsGA	NP_001035233.1:p.Glu1125=
NM_021007.2:c.3373_3374delinsGA	NP_066287.2:p.Glu1125=
XM_005246750.2:c.3373_3374delinsGA	XP_005246807.1:p.Glu1125=
XM_005246753.2:c.3373_3374delinsGA	XP_005246810.1:p.Glu1125=
XM_005246754.3:c.3343_3344delinsGA	XP_005246811.1:p.Glu1115=
XM_005246755.3:c.2620_2621delinsGA	XP_005246812.1:p.Glu874=
XM_011511608.1:c.3373_3374delinsGA	XP_011509910.1:p.Glu1125=
XM_011511609.1:c.3373_3374delinsGA	XP_011509911.1:p.Glu1125=
XM_005246753.3:c.3373_3374delinsGA	XP_005246810.1:p.Glu1125=
XM_017004656.1:c.3373_3374delinsGA	XP_016860145.1:p.Glu1125=
XM_017004657.1:c.3373_3374delinsGA	XP_016860146.1:p.Glu1125=
XM_017004658.1:c.2620_2621delinsGA	XP_016860147.1:p.Glu874=
XM_017004659.1:c.1171_1172delinsGA	XP_016860148.1:p.Glu391=
XM_024453037.1:c.2620_2621delinsGA	XP_024308805.1:p.Glu874=
NM_001040142.2:c.3373_3374delinsGA MANE Select	NP_001035232.1:p.Glu1125=
NM_001040143.2:c.3373_3374delinsGA	NP_001035233.1:p.Glu1125=
NM_001371246.1:c.3373_3374delinsGA MANE Plus Clinical	NP_001358175.1:p.Glu1125=
NM_001371247.1:c.3373_3374delinsGA	NP_001358176.1:p.Glu1125=
NM_021007.3:c.3373_3374delinsGA	NP_066287.2:p.Glu1125=