Canonical Allele Identifier: CA760112736

Gene: SCN2A

Linked Data

• dbSNP Id: rs1434427876
• gnomAD v3: 2-165287734-G-C
• gnomAD v4: 2-165287734-G-C
• MyVariant Identifiers: chr2:g.166144244G>C (hg19) ; chr2:g.165287734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165287734G>C , CM000664.2:g.165287734G>C	GRCh38
NC_000002.11:g.166144244G>C , CM000664.1:g.166144244G>C	GRCh37
NC_000002.10:g.165852490G>C	NCBI36
NG_008143.1:g.53333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.-51-8039G>C MANE Plus Clinical	ENSP00000486885.1:n.-51-8039G>C
ENST00000375437.7:c.-51-8039G>C MANE Select	ENSP00000364586.2:n.-51-8039G>C
ENST00000635945.1:n.313-8039G>C
ENST00000636071.2:c.-51-8039G>C	ENSP00000490107.1:n.-51-8039G>C
ENST00000636135.1:c.-207-2896G>C	ENSP00000489821.1:n.-207-2896G>C
ENST00000636384.2:c.-51-8039G>C	ENSP00000490765.1:n.-51-8039G>C
ENST00000636985.2:c.-552-8146G>C	ENSP00000490849.1:n.-552-8146G>C
ENST00000637266.2:c.-51-8039G>C	ENSP00000490866.1:n.-51-8039G>C
ENST00000637367.1:c.-51-8039G>C	ENSP00000490592.1:n.-51-8039G>C
ENST00000638151.1:n.141-8146G>C
ENST00000375437.6:c.-51-8039G>C	ENSP00000364586.2:n.-51-8039G>C
ENST00000424833.5:c.-51-8039G>C	ENSP00000406454.2:n.-51-8039G>C
ENST00000631182.2:c.-51-8039G>C	ENSP00000486885.1:n.-51-8039G>C
NM_001040142.1:c.-51-8039G>C	NP_001035232.1:n.-51-8039G>C
XM_005246750.2:c.-51-8039G>C	XP_005246807.1:n.-51-8039G>C
XM_005246753.2:c.-51-8039G>C	XP_005246810.1:n.-51-8039G>C
XM_005246754.3:c.27-8146G>C	XP_005246811.1:n.27-8146G>C
XM_011511608.1:c.-51-8039G>C	XP_011509910.1:n.-51-8039G>C
XM_011511609.1:c.-51-8039G>C	XP_011509911.1:n.-51-8039G>C
XM_005246753.3:c.-51-8039G>C	XP_005246810.1:n.-51-8039G>C
XM_017004656.1:c.-51-8039G>C	XP_016860145.1:n.-51-8039G>C
XM_017004658.1:c.-991-8039G>C	XP_016860147.1:n.-991-8039G>C
XM_024453037.1:c.-712-8039G>C	XP_024308805.1:n.-712-8039G>C
NM_001040142.2:c.-51-8039G>C MANE Select	NP_001035232.1:n.-51-8039G>C
NM_001040143.2:c.-51-8039G>C	NP_001035233.1:n.-51-8039G>C
NM_001371246.1:c.-51-8039G>C MANE Plus Clinical	NP_001358175.1:n.-51-8039G>C
NM_001371247.1:c.-51-8039G>C	NP_001358176.1:n.-51-8039G>C