Canonical Allele Identifier: CA2580064217

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1704268
• ClinVar RCV Id: RCV002281615

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310406_165310407delinsTC , CM000664.2:g.165310406_165310407delinsTC	GRCh38
NC_000002.11:g.166166916_166166917delinsTC , CM000664.1:g.166166916_166166917delinsTC	GRCh37
NC_000002.10:g.165875162_165875163delinsTC	NCBI36
NG_008143.1:g.76005_76006delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.781_782delinsTC MANE Plus Clinical	ENSP00000486885.1:p.Val261Ser
ENST00000375437.7:c.781_782delinsTC MANE Select	ENSP00000364586.2:p.Val261Ser
ENST00000635945.1:n.1144_1145delinsTC
ENST00000636071.2:c.781_782delinsTC	ENSP00000490107.1:p.Val261Ser
ENST00000636135.1:c.652_653delinsTC	ENSP00000489821.1:p.Val218Ser
ENST00000636384.2:c.781_782delinsTC	ENSP00000490765.1:p.Val261Ser
ENST00000636662.2:c.*1304_*1305delinsTC	ENSP00000489873.1:n.*1304_*1305delinsTC
ENST00000636769.1:c.781_782delinsTC	ENSP00000490800.1:p.Val261Ser
ENST00000636985.2:c.385_386delinsTC	ENSP00000490849.1:p.Val129Ser
ENST00000637266.2:c.781_782delinsTC	ENSP00000490866.1:p.Val261Ser
ENST00000637367.1:c.*714_*715delinsTC	ENSP00000490592.1:n.*714_*715delinsTC
ENST00000638151.1:n.865_866delinsTC
ENST00000283256.10:c.781_782delinsTC	ENSP00000283256.6:p.Val261Ser
ENST00000375427.4:c.781_782delinsTC	ENSP00000364576.2:p.Val261Ser
ENST00000375437.6:c.781_782delinsTC	ENSP00000364586.2:p.Val261Ser
ENST00000424833.5:c.781_782delinsTC	ENSP00000406454.2:p.Val261Ser
ENST00000480032.4:n.924_925delinsTC
ENST00000486878.2:c.322_323delinsTC	ENSP00000487466.1:p.Val108Ser
ENST00000631182.2:c.781_782delinsTC	ENSP00000486885.1:p.Val261Ser
NM_001040142.1:c.781_782delinsTC	NP_001035232.1:p.Val261Ser
NM_001040143.1:c.781_782delinsTC	NP_001035233.1:p.Val261Ser
NM_021007.2:c.781_782delinsTC	NP_066287.2:p.Val261Ser
XM_005246750.2:c.781_782delinsTC	XP_005246807.1:p.Val261Ser
XM_005246753.2:c.781_782delinsTC	XP_005246810.1:p.Val261Ser
XM_005246754.3:c.751_752delinsTC	XP_005246811.1:p.Val251Ser
XM_005246755.3:c.28_29delinsTC	XP_005246812.1:p.Val10Ser
XM_011511608.1:c.781_782delinsTC	XP_011509910.1:p.Val261Ser
XM_011511609.1:c.781_782delinsTC	XP_011509911.1:p.Val261Ser
XM_005246753.3:c.781_782delinsTC	XP_005246810.1:p.Val261Ser
XM_017004656.1:c.781_782delinsTC	XP_016860145.1:p.Val261Ser
XM_017004657.1:c.781_782delinsTC	XP_016860146.1:p.Val261Ser
XM_017004658.1:c.28_29delinsTC	XP_016860147.1:p.Val10Ser
XM_024453037.1:c.28_29delinsTC	XP_024308805.1:p.Val10Ser
NM_001040142.2:c.781_782delinsTC MANE Select	NP_001035232.1:p.Val261Ser
NM_001040143.2:c.781_782delinsTC	NP_001035233.1:p.Val261Ser
NM_001371246.1:c.781_782delinsTC MANE Plus Clinical	NP_001358175.1:p.Val261Ser
NM_001371247.1:c.781_782delinsTC	NP_001358176.1:p.Val261Ser
NM_021007.3:c.781_782delinsTC	NP_066287.2:p.Val261Ser