Canonical Allele Identifier: CA382784594
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs1334600931
gnomAD v2: 11-118038842-G-T
gnomAD v4: 11-118168127-G-T
MyVariant Identifiers: chr11:g.118038842G>T (hg19) chr11:g.118168127G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168127G>T , CM000673.2:g.118168127G>T GRCh38
NC_000011.9:g.118038842G>T , CM000673.1:g.118038842G>T GRCh37
NC_000011.8:g.117544052G>T NCBI36
NG_042217.1:g.13496C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.406C>A MANE Select ENSP00000278947.5:p.His136Asn
ENST00000658882.1:c.*231C>A ENSP00000499572.1:n.*231C>A
ENST00000669850.1:n.648C>A
ENST00000278947.5:c.406C>A ENSP00000278947.5:p.His136Asn
NM_004588.4:c.406C>A NP_004579.1:p.His136Asn
NM_004588.5:c.406C>A MANE Select NP_004579.1:p.His136Asn
Search 100 bp 5'
Search 100 bp 3'