Canonical Allele Identifier: CA1304555287

Gene: SCN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165367236_165367239delinsGTGT , CM000664.2:g.165367236_165367239delinsGTGT	GRCh38
NC_000002.11:g.166223746_166223749delinsGTGT , CM000664.1:g.166223746_166223749delinsGTGT	GRCh37
NC_000002.10:g.165931992_165931995delinsGTGT	NCBI36
NG_008143.1:g.132835_132838delinsGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3540_3543delinsGTGT MANE Plus Clinical	ENSP00000486885.1:p.Lys1180=
ENST00000375437.7:c.3540_3543delinsGTGT MANE Select	ENSP00000364586.2:p.Lys1180=
ENST00000636071.2:c.3540_3543delinsGTGT	ENSP00000490107.1:p.Lys1180=
ENST00000636135.1:c.*1859_*1862delinsGTGT	ENSP00000489821.1:n.*1859_*1862delinsGTGT
ENST00000636384.2:c.*1527_*1530delinsGTGT	ENSP00000490765.1:n.*1527_*1530delinsGTGT
ENST00000636662.2:c.*4063_*4066delinsGTGT	ENSP00000489873.1:n.*4063_*4066delinsGTGT
ENST00000636769.1:c.*1482_*1485delinsGTGT	ENSP00000490800.1:n.*1482_*1485delinsGTGT
ENST00000636985.2:c.3144_3147delinsGTGT	ENSP00000490849.1:p.Lys1048=
ENST00000637266.2:c.3540_3543delinsGTGT	ENSP00000490866.1:p.Lys1180=
ENST00000283256.10:c.3540_3543delinsGTGT	ENSP00000283256.6:p.Lys1180=
ENST00000375427.4:c.3540_3543delinsGTGT	ENSP00000364576.2:p.Lys1180=
ENST00000375437.6:c.3540_3543delinsGTGT	ENSP00000364586.2:p.Lys1180=
ENST00000480032.4:n.3683_3686delinsGTGT
ENST00000631182.2:c.3540_3543delinsGTGT	ENSP00000486885.1:p.Lys1180=
NM_001040142.1:c.3540_3543delinsGTGT	NP_001035232.1:p.Lys1180=
NM_001040143.1:c.3540_3543delinsGTGT	NP_001035233.1:p.Lys1180=
NM_021007.2:c.3540_3543delinsGTGT	NP_066287.2:p.Lys1180=
XM_005246750.2:c.3540_3543delinsGTGT	XP_005246807.1:p.Lys1180=
XM_005246753.2:c.3540_3543delinsGTGT	XP_005246810.1:p.Lys1180=
XM_005246754.3:c.3510_3513delinsGTGT	XP_005246811.1:p.Lys1170=
XM_005246755.3:c.2787_2790delinsGTGT	XP_005246812.1:p.Lys929=
XM_011511608.1:c.3540_3543delinsGTGT	XP_011509910.1:p.Lys1180=
XM_011511609.1:c.3540_3543delinsGTGT	XP_011509911.1:p.Lys1180=
XM_005246753.3:c.3540_3543delinsGTGT	XP_005246810.1:p.Lys1180=
XM_017004656.1:c.3540_3543delinsGTGT	XP_016860145.1:p.Lys1180=
XM_017004657.1:c.3540_3543delinsGTGT	XP_016860146.1:p.Lys1180=
XM_017004658.1:c.2787_2790delinsGTGT	XP_016860147.1:p.Lys929=
XM_017004659.1:c.1338_1341delinsGTGT	XP_016860148.1:p.Lys446=
XM_024453037.1:c.2787_2790delinsGTGT	XP_024308805.1:p.Lys929=
NM_001040142.2:c.3540_3543delinsGTGT MANE Select	NP_001035232.1:p.Lys1180=
NM_001040143.2:c.3540_3543delinsGTGT	NP_001035233.1:p.Lys1180=
NM_001371246.1:c.3540_3543delinsGTGT MANE Plus Clinical	NP_001358175.1:p.Lys1180=
NM_001371247.1:c.3540_3543delinsGTGT	NP_001358176.1:p.Lys1180=
NM_021007.3:c.3540_3543delinsGTGT	NP_066287.2:p.Lys1180=