Canonical Allele Identifier: CA349019565

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 575887
• ClinVar RCV Id: RCV000698229
• dbSNP Id: rs1336113495
• MyVariant Identifiers: chr2:g.166210767T>A (hg19) ; chr2:g.165354257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165354257T>A , CM000664.2:g.165354257T>A	GRCh38
NC_000002.11:g.166210767T>A , CM000664.1:g.166210767T>A	GRCh37
NC_000002.10:g.165919013T>A	NCBI36
NG_008143.1:g.119856T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2985T>A MANE Plus Clinical	ENSP00000486885.1:p.Asp995Glu
ENST00000375437.7:c.2985T>A MANE Select	ENSP00000364586.2:p.Asp995Glu
ENST00000636071.2:c.2985T>A	ENSP00000490107.1:p.Asp995Glu
ENST00000636135.1:c.*1304T>A	ENSP00000489821.1:n.*1304T>A
ENST00000636384.2:c.*972T>A	ENSP00000490765.1:n.*972T>A
ENST00000636662.2:c.*3508T>A	ENSP00000489873.1:n.*3508T>A
ENST00000636769.1:c.*927T>A	ENSP00000490800.1:n.*927T>A
ENST00000636985.2:c.2589T>A	ENSP00000490849.1:p.Asp863Glu
ENST00000637266.2:c.2985T>A	ENSP00000490866.1:p.Asp995Glu
ENST00000673831.1:c.731T>A	ENSP00000501305.1:n.731T>A
ENST00000673883.1:c.550T>A	ENSP00000501309.1:n.550T>A
ENST00000674133.1:c.836T>A
ENST00000283256.10:c.2985T>A	ENSP00000283256.6:p.Asp995Glu
ENST00000375427.4:c.2985T>A	ENSP00000364576.2:p.Asp995Glu
ENST00000375437.6:c.2985T>A	ENSP00000364586.2:p.Asp995Glu
ENST00000480032.4:n.3128T>A
ENST00000631182.2:c.2985T>A	ENSP00000486885.1:p.Asp995Glu
NM_001040142.1:c.2985T>A	NP_001035232.1:p.Asp995Glu
NM_001040143.1:c.2985T>A	NP_001035233.1:p.Asp995Glu
NM_021007.2:c.2985T>A	NP_066287.2:p.Asp995Glu
XM_005246750.2:c.2985T>A	XP_005246807.1:p.Asp995Glu
XM_005246753.2:c.2985T>A	XP_005246810.1:p.Asp995Glu
XM_005246754.3:c.2955T>A	XP_005246811.1:p.Asp985Glu
XM_005246755.3:c.2232T>A	XP_005246812.1:p.Asp744Glu
XM_011511608.1:c.2985T>A	XP_011509910.1:p.Asp995Glu
XM_011511609.1:c.2985T>A	XP_011509911.1:p.Asp995Glu
XM_005246753.3:c.2985T>A	XP_005246810.1:p.Asp995Glu
XM_017004656.1:c.2985T>A	XP_016860145.1:p.Asp995Glu
XM_017004657.1:c.2985T>A	XP_016860146.1:p.Asp995Glu
XM_017004658.1:c.2232T>A	XP_016860147.1:p.Asp744Glu
XM_017004659.1:c.783T>A	XP_016860148.1:p.Asp261Glu
XM_024453037.1:c.2232T>A	XP_024308805.1:p.Asp744Glu
NM_001040142.2:c.2985T>A MANE Select	NP_001035232.1:p.Asp995Glu
NM_001040143.2:c.2985T>A	NP_001035233.1:p.Asp995Glu
NM_001371246.1:c.2985T>A MANE Plus Clinical	NP_001358175.1:p.Asp995Glu
NM_001371247.1:c.2985T>A	NP_001358176.1:p.Asp995Glu
NM_021007.3:c.2985T>A	NP_066287.2:p.Asp995Glu