Canonical Allele Identifier: CA760112793

Gene: SCN2A

Linked Data

• dbSNP Id: rs1248912355
• gnomAD v3: 2-165287855-G-A
• gnomAD v4: 2-165287855-G-A
• MyVariant Identifiers: chr2:g.166144365G>A (hg19) ; chr2:g.165287855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165287855G>A , CM000664.2:g.165287855G>A	GRCh38
NC_000002.11:g.166144365G>A , CM000664.1:g.166144365G>A	GRCh37
NC_000002.10:g.165852611G>A	NCBI36
NG_008143.1:g.53454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.-51-7918G>A MANE Plus Clinical	ENSP00000486885.1:n.-51-7918G>A
ENST00000375437.7:c.-51-7918G>A MANE Select	ENSP00000364586.2:n.-51-7918G>A
ENST00000635945.1:n.313-7918G>A
ENST00000636071.2:c.-51-7918G>A	ENSP00000490107.1:n.-51-7918G>A
ENST00000636135.1:c.-207-2775G>A	ENSP00000489821.1:n.-207-2775G>A
ENST00000636384.2:c.-51-7918G>A	ENSP00000490765.1:n.-51-7918G>A
ENST00000636985.2:c.-552-8025G>A	ENSP00000490849.1:n.-552-8025G>A
ENST00000637266.2:c.-51-7918G>A	ENSP00000490866.1:n.-51-7918G>A
ENST00000637367.1:c.-51-7918G>A	ENSP00000490592.1:n.-51-7918G>A
ENST00000638151.1:n.141-8025G>A
ENST00000375437.6:c.-51-7918G>A	ENSP00000364586.2:n.-51-7918G>A
ENST00000424833.5:c.-51-7918G>A	ENSP00000406454.2:n.-51-7918G>A
ENST00000631182.2:c.-51-7918G>A	ENSP00000486885.1:n.-51-7918G>A
NM_001040142.1:c.-51-7918G>A	NP_001035232.1:n.-51-7918G>A
XM_005246750.2:c.-51-7918G>A	XP_005246807.1:n.-51-7918G>A
XM_005246753.2:c.-51-7918G>A	XP_005246810.1:n.-51-7918G>A
XM_005246754.3:c.27-8025G>A	XP_005246811.1:n.27-8025G>A
XM_011511608.1:c.-51-7918G>A	XP_011509910.1:n.-51-7918G>A
XM_011511609.1:c.-51-7918G>A	XP_011509911.1:n.-51-7918G>A
XM_005246753.3:c.-51-7918G>A	XP_005246810.1:n.-51-7918G>A
XM_017004656.1:c.-51-7918G>A	XP_016860145.1:n.-51-7918G>A
XM_017004658.1:c.-991-7918G>A	XP_016860147.1:n.-991-7918G>A
XM_024453037.1:c.-712-7918G>A	XP_024308805.1:n.-712-7918G>A
NM_001040142.2:c.-51-7918G>A MANE Select	NP_001035232.1:n.-51-7918G>A
NM_001040143.2:c.-51-7918G>A	NP_001035233.1:n.-51-7918G>A
NM_001371246.1:c.-51-7918G>A MANE Plus Clinical	NP_001358175.1:n.-51-7918G>A
NM_001371247.1:c.-51-7918G>A	NP_001358176.1:n.-51-7918G>A