Canonical Allele Identifier: CA214436

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 60769
• ClinVar RCV Id: RCV000054539 ; RCV000483016 ; RCV002426610
• dbSNP Id: rs17121819
• ExAC: 11:118039455 G / A
• gnomAD v2: 11-118039455-G-A
• gnomAD v3: 11-118168740-G-A
• gnomAD v4: 11-118168740-G-A
• MyVariant Identifiers: chr11:g.118039455G>A (hg19) ; chr11:g.118168740G>A (hg38)
• PubMed: PMID:19808477

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168740G>A , CM000673.2:g.118168740G>A	GRCh38
NC_000011.9:g.118039455G>A , CM000673.1:g.118039455G>A	GRCh37
NC_000011.8:g.117544665G>A	NCBI36
NG_042217.1:g.12883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.82C>T MANE Select	ENSP00000278947.5:p.Arg28Trp
ENST00000658882.1:c.186C>T	ENSP00000499572.1:p.Asp62=
ENST00000665446.1:n.318C>T
ENST00000669850.1:n.324C>T
ENST00000278947.5:c.82C>T	ENSP00000278947.5:p.Arg28Trp
NM_004588.4:c.82C>T	NP_004579.1:p.Arg28Trp
NM_004588.5:c.82C>T MANE Select	NP_004579.1:p.Arg28Trp