Canonical Allele Identifier: CA236788

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 191494
• ClinVar RCV Id: RCV000171691 ; RCV001220499 ; RCV002336406
• dbSNP Id: rs200761835
• ExAC: 11:118039419 C / T
• gnomAD v2: 11-118039419-C-T
• gnomAD v3: 11-118168704-C-T
• gnomAD v4: 11-118168704-C-T
• MyVariant Identifiers: chr11:g.118039419C>T (hg19) ; chr11:g.118168704C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168704C>T , CM000673.2:g.118168704C>T	GRCh38
NC_000011.9:g.118039419C>T , CM000673.1:g.118039419C>T	GRCh37
NC_000011.8:g.117544629C>T	NCBI36
NG_042217.1:g.12919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.118G>A MANE Select	ENSP00000278947.5:p.Val40Ile
ENST00000658882.1:c.222G>A	ENSP00000499572.1:p.Thr74=
ENST00000665446.1:n.354G>A
ENST00000669850.1:n.360G>A
ENST00000278947.5:c.118G>A	ENSP00000278947.5:p.Val40Ile
NM_004588.4:c.118G>A	NP_004579.1:p.Val40Ile
NM_004588.5:c.118G>A MANE Select	NP_004579.1:p.Val40Ile