Canonical Allele Identifier: CA382769764

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 1794703
• ClinVar RCV Id: RCV002437332 ; RCV003102109
• dbSNP Id: rs1451432673
• gnomAD v2: 11-118039427-G-A
• gnomAD v4: 11-118168712-G-A
• COSMIC: COSM1704608
• MyVariant Identifiers: chr11:g.118039427G>A (hg19) ; chr11:g.118168712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168712G>A , CM000673.2:g.118168712G>A	GRCh38
NC_000011.9:g.118039427G>A , CM000673.1:g.118039427G>A	GRCh37
NC_000011.8:g.117544637G>A	NCBI36
NG_042217.1:g.12911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.110C>T MANE Select	ENSP00000278947.5:p.Thr37Ile
ENST00000658882.1:c.214C>T	ENSP00000499572.1:p.Pro72Ser
ENST00000665446.1:n.346C>T
ENST00000669850.1:n.352C>T
ENST00000278947.5:c.110C>T	ENSP00000278947.5:p.Thr37Ile
NM_004588.4:c.110C>T	NP_004579.1:p.Thr37Ile
NM_004588.5:c.110C>T MANE Select	NP_004579.1:p.Thr37Ile