Canonical Allele Identifier: CA6300463
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs768191108
ExAC: 11:118038845 G / A
gnomAD v2: 11-118038845-G-A
gnomAD v4: 11-118168130-G-A
COSMIC: COSM4018242
MyVariant Identifiers: chr11:g.118038845G>A (hg19) chr11:g.118168130G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168130G>A , CM000673.2:g.118168130G>A GRCh38
NC_000011.9:g.118038845G>A , CM000673.1:g.118038845G>A GRCh37
NC_000011.8:g.117544055G>A NCBI36
NG_042217.1:g.13493C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.403C>T MANE Select ENSP00000278947.5:p.Arg135Cys
ENST00000658882.1:c.*228C>T ENSP00000499572.1:n.*228C>T
ENST00000669850.1:n.645C>T
ENST00000278947.5:c.403C>T ENSP00000278947.5:p.Arg135Cys
NM_004588.4:c.403C>T NP_004579.1:p.Arg135Cys
NM_004588.5:c.403C>T MANE Select NP_004579.1:p.Arg135Cys
Search 100 bp 5'
Search 100 bp 3'