Canonical Allele Identifier: CA2573133453

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 1381138
• ClinVar RCV Id: RCV001895216
• dbSNP Id: rs2105365318

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165370252dup , CM000664.2:g.165370252dup	GRCh38
NC_000002.11:g.166226762dup , CM000664.1:g.166226762dup	GRCh37
NC_000002.10:g.165935008dup	NCBI36
NG_008143.1:g.135851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3802dup MANE Plus Clinical	ENSP00000486885.1:p.Val1268GlyfsTer16
ENST00000375437.7:c.3802dup MANE Select	ENSP00000364586.2:p.Val1268GlyfsTer16
ENST00000636071.2:c.3802dup	ENSP00000490107.1:p.Val1268GlyfsTer16
ENST00000636135.1:c.*2121dup	ENSP00000489821.1:n.*2121dup
ENST00000636384.2:c.*1789dup	ENSP00000490765.1:n.*1789dup
ENST00000636662.2:c.*4325dup	ENSP00000489873.1:n.*4325dup
ENST00000636769.1:c.*1744dup	ENSP00000490800.1:n.*1744dup
ENST00000636985.2:c.3406dup	ENSP00000490849.1:p.Val1136GlyfsTer16
ENST00000637266.2:c.3802dup	ENSP00000490866.1:p.Val1268GlyfsTer16
ENST00000283256.10:c.3802dup	ENSP00000283256.6:p.Val1268GlyfsTer16
ENST00000375427.4:c.3802dup	ENSP00000364576.2:p.Val1268GlyfsTer16
ENST00000375437.6:c.3802dup	ENSP00000364586.2:p.Val1268GlyfsTer16
ENST00000480032.4:n.3945dup
ENST00000631182.2:c.3802dup	ENSP00000486885.1:p.Val1268GlyfsTer16
NM_001040142.1:c.3802dup	NP_001035232.1:p.Val1268GlyfsTer16
NM_001040143.1:c.3802dup	NP_001035233.1:p.Val1268GlyfsTer16
NM_021007.2:c.3802dup	NP_066287.2:p.Val1268GlyfsTer16
XM_005246750.2:c.3802dup	XP_005246807.1:p.Val1268GlyfsTer16
XM_005246753.2:c.3802dup	XP_005246810.1:p.Val1268GlyfsTer16
XM_005246754.3:c.3772dup	XP_005246811.1:p.Val1258GlyfsTer16
XM_005246755.3:c.3049dup	XP_005246812.1:p.Val1017GlyfsTer16
XM_011511608.1:c.3802dup	XP_011509910.1:p.Val1268GlyfsTer16
XM_011511609.1:c.3802dup	XP_011509911.1:p.Val1268GlyfsTer16
XM_005246753.3:c.3802dup	XP_005246810.1:p.Val1268GlyfsTer16
XM_017004656.1:c.3802dup	XP_016860145.1:p.Val1268GlyfsTer16
XM_017004657.1:c.3802dup	XP_016860146.1:p.Val1268GlyfsTer16
XM_017004658.1:c.3049dup	XP_016860147.1:p.Val1017GlyfsTer16
XM_017004659.1:c.1600dup	XP_016860148.1:p.Val534GlyfsTer16
XM_024453037.1:c.3049dup	XP_024308805.1:p.Val1017GlyfsTer16
NM_001040142.2:c.3802dup MANE Select	NP_001035232.1:p.Val1268GlyfsTer16
NM_001040143.2:c.3802dup	NP_001035233.1:p.Val1268GlyfsTer16
NM_001371246.1:c.3802dup MANE Plus Clinical	NP_001358175.1:p.Val1268GlyfsTer16
NM_001371247.1:c.3802dup	NP_001358176.1:p.Val1268GlyfsTer16
NM_021007.3:c.3802dup	NP_066287.2:p.Val1268GlyfsTer16