Canonical Allele Identifier: CA122770

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 12878
• ClinVar RCV Id: RCV000013738 ; RCV000189121 ; RCV000527590 ; RCV003224096
• dbSNP Id: rs121917751
• gnomAD v4: 2-165344666-G-A
• MyVariant Identifiers: chr2:g.166201176G>A (hg19) ; chr2:g.165344666G>A (hg38)
• PubMed: PMID:6660252 ; PMID:15048894

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165344666G>A , CM000664.2:g.165344666G>A	GRCh38
NC_000002.11:g.166201176G>A , CM000664.1:g.166201176G>A	GRCh37
NC_000002.10:g.165909422G>A	NCBI36
NG_008143.1:g.110265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2674G>A MANE Plus Clinical	ENSP00000486885.1:p.Val892Ile
ENST00000375437.7:c.2674G>A MANE Select	ENSP00000364586.2:p.Val892Ile
ENST00000636071.2:c.2674G>A	ENSP00000490107.1:p.Val892Ile
ENST00000636135.1:c.*993G>A	ENSP00000489821.1:n.*993G>A
ENST00000636384.2:c.*661G>A	ENSP00000490765.1:n.*661G>A
ENST00000636662.2:c.*3197G>A	ENSP00000489873.1:n.*3197G>A
ENST00000636769.1:c.*616G>A	ENSP00000490800.1:n.*616G>A
ENST00000636985.2:c.2278G>A	ENSP00000490849.1:p.Val760Ile
ENST00000637266.2:c.2674G>A	ENSP00000490866.1:p.Val892Ile
ENST00000673831.1:c.112G>A	ENSP00000501305.1:p.Val38Ile
ENST00000673883.1:c.112G>A	ENSP00000501309.1:p.Val38Ile
ENST00000674133.1:c.525G>A
ENST00000283256.10:c.2674G>A	ENSP00000283256.6:p.Val892Ile
ENST00000375427.4:c.2674G>A	ENSP00000364576.2:p.Val892Ile
ENST00000375437.6:c.2674G>A	ENSP00000364586.2:p.Val892Ile
ENST00000480032.4:n.2817G>A
ENST00000631182.2:c.2674G>A	ENSP00000486885.1:p.Val892Ile
NM_001040142.1:c.2674G>A	NP_001035232.1:p.Val892Ile
NM_001040143.1:c.2674G>A	NP_001035233.1:p.Val892Ile
NM_021007.2:c.2674G>A	NP_066287.2:p.Val892Ile
XM_005246750.2:c.2674G>A	XP_005246807.1:p.Val892Ile
XM_005246753.2:c.2674G>A	XP_005246810.1:p.Val892Ile
XM_005246754.3:c.2644G>A	XP_005246811.1:p.Val882Ile
XM_005246755.3:c.1921G>A	XP_005246812.1:p.Val641Ile
XM_011511608.1:c.2674G>A	XP_011509910.1:p.Val892Ile
XM_011511609.1:c.2674G>A	XP_011509911.1:p.Val892Ile
XM_005246753.3:c.2674G>A	XP_005246810.1:p.Val892Ile
XM_017004656.1:c.2674G>A	XP_016860145.1:p.Val892Ile
XM_017004657.1:c.2674G>A	XP_016860146.1:p.Val892Ile
XM_017004658.1:c.1921G>A	XP_016860147.1:p.Val641Ile
XM_017004659.1:c.472G>A	XP_016860148.1:p.Val158Ile
XM_024453037.1:c.1921G>A	XP_024308805.1:p.Val641Ile
NM_001040142.2:c.2674G>A MANE Select	NP_001035232.1:p.Val892Ile
NM_001040143.2:c.2674G>A	NP_001035233.1:p.Val892Ile
NM_001371246.1:c.2674G>A MANE Plus Clinical	NP_001358175.1:p.Val892Ile
NM_001371247.1:c.2674G>A	NP_001358176.1:p.Val892Ile
NM_021007.3:c.2674G>A	NP_066287.2:p.Val892Ile