Canonical Allele Identifier: CA2499215153

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1198013
• ClinVar RCV Id: RCV001562032
• dbSNP Id: rs2105247197

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165310346del , CM000664.2:g.165310346del	GRCh38
NC_000002.11:g.166166856del , CM000664.1:g.166166856del	GRCh37
NC_000002.10:g.165875102del	NCBI36
NG_008143.1:g.75945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.721del MANE Plus Clinical	ENSP00000486885.1:p.Leu241Ter
ENST00000375437.7:c.721del MANE Select	ENSP00000364586.2:p.Leu241Ter
ENST00000635945.1:n.1084del
ENST00000636071.2:c.721del	ENSP00000490107.1:p.Leu241Ter
ENST00000636135.1:c.592del	ENSP00000489821.1:p.Leu198Ter
ENST00000636384.2:c.721del	ENSP00000490765.1:p.Leu241Ter
ENST00000636662.2:c.*1244del	ENSP00000489873.1:n.*1244del
ENST00000636769.1:c.721del	ENSP00000490800.1:p.Leu241Ter
ENST00000636985.2:c.325del	ENSP00000490849.1:p.Leu109Ter
ENST00000637266.2:c.721del	ENSP00000490866.1:p.Leu241Ter
ENST00000637367.1:c.*654del	ENSP00000490592.1:n.*654del
ENST00000638151.1:n.805del
ENST00000283256.10:c.721del	ENSP00000283256.6:p.Leu241Ter
ENST00000375427.4:c.721del	ENSP00000364576.2:p.Leu241Ter
ENST00000375437.6:c.721del	ENSP00000364586.2:p.Leu241Ter
ENST00000424833.5:c.721del	ENSP00000406454.2:p.Leu241Ter
ENST00000480032.4:n.864del
ENST00000486878.2:c.262del	ENSP00000487466.1:p.Leu88Ter
ENST00000631182.2:c.721del	ENSP00000486885.1:p.Leu241Ter
NM_001040142.1:c.721del	NP_001035232.1:p.Leu241Ter
NM_001040143.1:c.721del	NP_001035233.1:p.Leu241Ter
NM_021007.2:c.721del	NP_066287.2:p.Leu241Ter
XM_005246750.2:c.721del	XP_005246807.1:p.Leu241Ter
XM_005246753.2:c.721del	XP_005246810.1:p.Leu241Ter
XM_005246754.3:c.691del	XP_005246811.1:p.Leu231Ter
XM_005246755.3:c.-33del	XP_005246812.1:n.-33del
XM_011511608.1:c.721del	XP_011509910.1:p.Leu241Ter
XM_011511609.1:c.721del	XP_011509911.1:p.Leu241Ter
XM_005246753.3:c.721del	XP_005246810.1:p.Leu241Ter
XM_017004656.1:c.721del	XP_016860145.1:p.Leu241Ter
XM_017004657.1:c.721del	XP_016860146.1:p.Leu241Ter
XM_017004658.1:c.-33del	XP_016860147.1:n.-33del
XM_024453037.1:c.-33del	XP_024308805.1:n.-33del
NM_001040142.2:c.721del MANE Select	NP_001035232.1:p.Leu241Ter
NM_001040143.2:c.721del	NP_001035233.1:p.Leu241Ter
NM_001371246.1:c.721del MANE Plus Clinical	NP_001358175.1:p.Leu241Ter
NM_001371247.1:c.721del	NP_001358176.1:p.Leu241Ter
NM_021007.3:c.721del	NP_066287.2:p.Leu241Ter