Canonical Allele Identifier: CA2506734618

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386935_165386936insT , CM000664.2:g.165386935_165386936insT	GRCh38
NC_000002.11:g.166243445_166243446insT , CM000664.1:g.166243445_166243446insT	GRCh37
NC_000002.10:g.165951691_165951692insT	NCBI36
NG_008143.1:g.152534_152535insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4741_4742insT MANE Plus Clinical	ENSP00000486885.1:p.Lys1581IlefsTer18
ENST00000375437.7:c.4741_4742insT MANE Select	ENSP00000364586.2:p.Lys1581IlefsTer18
ENST00000636071.2:c.4741_4742insT	ENSP00000490107.1:p.Lys1581IlefsTer18
ENST00000636135.1:c.*3060_*3061insT	ENSP00000489821.1:n.*3060_*3061insT
ENST00000636384.2:c.*2728_*2729insT	ENSP00000490765.1:n.*2728_*2729insT
ENST00000636662.2:c.*5264_*5265insT	ENSP00000489873.1:n.*5264_*5265insT
ENST00000636769.1:c.*2683_*2684insT	ENSP00000490800.1:n.*2683_*2684insT
ENST00000636985.2:c.4345_4346insT	ENSP00000490849.1:p.Lys1449IlefsTer18
ENST00000637266.2:c.4741_4742insT	ENSP00000490866.1:p.Lys1581IlefsTer18
ENST00000283256.10:c.4741_4742insT	ENSP00000283256.6:p.Lys1581IlefsTer18
ENST00000375427.4:c.4741_4742insT	ENSP00000364576.2:p.Lys1581IlefsTer18
ENST00000375437.6:c.4741_4742insT	ENSP00000364586.2:p.Lys1581IlefsTer18
ENST00000480032.4:n.8172_8173insT
ENST00000631182.2:c.4741_4742insT	ENSP00000486885.1:p.Lys1581IlefsTer18
NM_001040142.1:c.4741_4742insT	NP_001035232.1:p.Lys1581IlefsTer18
NM_001040143.1:c.4741_4742insT	NP_001035233.1:p.Lys1581IlefsTer18
NM_021007.2:c.4741_4742insT	NP_066287.2:p.Lys1581IlefsTer18
XM_005246750.2:c.4741_4742insT	XP_005246807.1:p.Lys1581IlefsTer18
XM_005246753.2:c.4741_4742insT	XP_005246810.1:p.Lys1581IlefsTer18
XM_005246754.3:c.4711_4712insT	XP_005246811.1:p.Lys1571IlefsTer18
XM_005246755.3:c.3988_3989insT	XP_005246812.1:p.Lys1330IlefsTer18
XM_011511608.1:c.4741_4742insT	XP_011509910.1:p.Lys1581IlefsTer18
XM_011511609.1:c.4741_4742insT	XP_011509911.1:p.Lys1581IlefsTer18
XM_005246753.3:c.4741_4742insT	XP_005246810.1:p.Lys1581IlefsTer18
XM_017004656.1:c.4741_4742insT	XP_016860145.1:p.Lys1581IlefsTer18
XM_017004657.1:c.4741_4742insT	XP_016860146.1:p.Lys1581IlefsTer18
XM_017004658.1:c.3988_3989insT	XP_016860147.1:p.Lys1330IlefsTer18
XM_017004659.1:c.2539_2540insT	XP_016860148.1:p.Lys847IlefsTer18
XM_024453037.1:c.3988_3989insT	XP_024308805.1:p.Lys1330IlefsTer18
NM_001040142.2:c.4741_4742insT MANE Select	NP_001035232.1:p.Lys1581IlefsTer18
NM_001040143.2:c.4741_4742insT	NP_001035233.1:p.Lys1581IlefsTer18
NM_001371246.1:c.4741_4742insT MANE Plus Clinical	NP_001358175.1:p.Lys1581IlefsTer18
NM_001371247.1:c.4741_4742insT	NP_001358176.1:p.Lys1581IlefsTer18
NM_021007.3:c.4741_4742insT	NP_066287.2:p.Lys1581IlefsTer18