Canonical Allele Identifier: CA2661734439

Gene: SCN2A

Linked Data

• gnomAD v4: 2-165271427-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165271427G>A , CM000664.2:g.165271427G>A	GRCh38
NC_000002.11:g.166127937G>A , CM000664.1:g.166127937G>A	GRCh37
NC_000002.10:g.165836183G>A	NCBI36
NG_008143.1:g.37026G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000631182.3:c.-51-24346G>A MANE Plus Clinical	ENSP00000486885.1:n.-51-24346G>A
ENST00000375437.7:c.-51-24346G>A MANE Select	ENSP00000364586.2:n.-51-24346G>A
ENST00000635945.1:n.313-24346G>A
ENST00000636071.2:c.-51-24346G>A	ENSP00000490107.1:n.-51-24346G>A
ENST00000636135.1:c.-207-19203G>A	ENSP00000489821.1:n.-207-19203G>A
ENST00000636384.2:c.-51-24346G>A	ENSP00000490765.1:n.-51-24346G>A
ENST00000636985.2:c.-552-24453G>A	ENSP00000490849.1:n.-552-24453G>A
ENST00000637266.2:c.-51-24346G>A	ENSP00000490866.1:n.-51-24346G>A
ENST00000637367.1:c.-51-24346G>A	ENSP00000490592.1:n.-51-24346G>A
ENST00000638151.1:n.141-24453G>A
ENST00000640791.1:n.5258G>A
ENST00000375437.6:c.-51-24346G>A	ENSP00000364586.2:n.-51-24346G>A
ENST00000424833.5:c.-51-24346G>A	ENSP00000406454.2:n.-51-24346G>A
ENST00000631182.2:c.-51-24346G>A	ENSP00000486885.1:n.-51-24346G>A
NM_001040142.1:c.-51-24346G>A	NP_001035232.1:n.-51-24346G>A
XM_005246750.2:c.-51-24346G>A	XP_005246807.1:n.-51-24346G>A
XM_005246753.2:c.-51-24346G>A	XP_005246810.1:n.-51-24346G>A
XM_005246754.3:c.27-24453G>A	XP_005246811.1:n.27-24453G>A
XM_011511608.1:c.-51-24346G>A	XP_011509910.1:n.-51-24346G>A
XM_011511609.1:c.-51-24346G>A	XP_011509911.1:n.-51-24346G>A
XM_005246753.3:c.-51-24346G>A	XP_005246810.1:n.-51-24346G>A
XM_017004656.1:c.-51-24346G>A	XP_016860145.1:n.-51-24346G>A
XM_017004658.1:c.-991-24346G>A	XP_016860147.1:n.-991-24346G>A
XM_024453037.1:c.-712-24346G>A	XP_024308805.1:n.-712-24346G>A
NM_001040142.2:c.-51-24346G>A MANE Select	NP_001035232.1:n.-51-24346G>A
NM_001040143.2:c.-51-24346G>A	NP_001035233.1:n.-51-24346G>A
NM_001371246.1:c.-51-24346G>A MANE Plus Clinical	NP_001358175.1:n.-51-24346G>A
NM_001371247.1:c.-51-24346G>A	NP_001358176.1:n.-51-24346G>A