Canonical Allele Identifier: CA1139657293

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 978922
• ClinVar RCV Id: RCV001257713
• dbSNP Id: rs1700956378

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165370248del , CM000664.2:g.165370248del	GRCh38
NC_000002.11:g.166226758del , CM000664.1:g.166226758del	GRCh37
NC_000002.10:g.165935004del	NCBI36
NG_008143.1:g.135847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.3798del MANE Plus Clinical	ENSP00000486885.1:p.Gln1267LysfsTer11
ENST00000375437.7:c.3798del MANE Select	ENSP00000364586.2:p.Gln1267LysfsTer11
ENST00000636071.2:c.3798del	ENSP00000490107.1:p.Gln1267LysfsTer11
ENST00000636135.1:c.*2117del	ENSP00000489821.1:n.*2117del
ENST00000636384.2:c.*1785del	ENSP00000490765.1:n.*1785del
ENST00000636662.2:c.*4321del	ENSP00000489873.1:n.*4321del
ENST00000636769.1:c.*1740del	ENSP00000490800.1:n.*1740del
ENST00000636985.2:c.3402del	ENSP00000490849.1:p.Gln1135LysfsTer11
ENST00000637266.2:c.3798del	ENSP00000490866.1:p.Gln1267LysfsTer11
ENST00000283256.10:c.3798del	ENSP00000283256.6:p.Gln1267LysfsTer11
ENST00000375427.4:c.3798del	ENSP00000364576.2:p.Gln1267LysfsTer11
ENST00000375437.6:c.3798del	ENSP00000364586.2:p.Gln1267LysfsTer11
ENST00000480032.4:n.3941del
ENST00000631182.2:c.3798del	ENSP00000486885.1:p.Gln1267LysfsTer11
NM_001040142.1:c.3798del	NP_001035232.1:p.Gln1267LysfsTer11
NM_001040143.1:c.3798del	NP_001035233.1:p.Gln1267LysfsTer11
NM_021007.2:c.3798del	NP_066287.2:p.Gln1267LysfsTer11
XM_005246750.2:c.3798del	XP_005246807.1:p.Gln1267LysfsTer11
XM_005246753.2:c.3798del	XP_005246810.1:p.Gln1267LysfsTer11
XM_005246754.3:c.3768del	XP_005246811.1:p.Gln1257LysfsTer11
XM_005246755.3:c.3045del	XP_005246812.1:p.Gln1016LysfsTer11
XM_011511608.1:c.3798del	XP_011509910.1:p.Gln1267LysfsTer11
XM_011511609.1:c.3798del	XP_011509911.1:p.Gln1267LysfsTer11
XM_005246753.3:c.3798del	XP_005246810.1:p.Gln1267LysfsTer11
XM_017004656.1:c.3798del	XP_016860145.1:p.Gln1267LysfsTer11
XM_017004657.1:c.3798del	XP_016860146.1:p.Gln1267LysfsTer11
XM_017004658.1:c.3045del	XP_016860147.1:p.Gln1016LysfsTer11
XM_017004659.1:c.1596del	XP_016860148.1:p.Gln533LysfsTer11
XM_024453037.1:c.3045del	XP_024308805.1:p.Gln1016LysfsTer11
NM_001040142.2:c.3798del MANE Select	NP_001035232.1:p.Gln1267LysfsTer11
NM_001040143.2:c.3798del	NP_001035233.1:p.Gln1267LysfsTer11
NM_001371246.1:c.3798del MANE Plus Clinical	NP_001358175.1:p.Gln1267LysfsTer11
NM_001371247.1:c.3798del	NP_001358176.1:p.Gln1267LysfsTer11
NM_021007.3:c.3798del	NP_066287.2:p.Gln1267LysfsTer11