Canonical Allele Identifier: CA6300462
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1737352
ClinVar RCV Id: RCV002321271 RCV003395458
dbSNP Id: rs370514575
ExAC: 11:118038844 C / T
gnomAD v2: 11-118038844-C-T
gnomAD v3: 11-118168129-C-T
gnomAD v4: 11-118168129-C-T
MyVariant Identifiers: chr11:g.118038844C>T (hg19) chr11:g.118168129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168129C>T , CM000673.2:g.118168129C>T GRCh38
NC_000011.9:g.118038844C>T , CM000673.1:g.118038844C>T GRCh37
NC_000011.8:g.117544054C>T NCBI36
NG_042217.1:g.13494G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.404G>A MANE Select ENSP00000278947.5:p.Arg135His
ENST00000658882.1:c.*229G>A ENSP00000499572.1:n.*229G>A
ENST00000669850.1:n.646G>A
ENST00000278947.5:c.404G>A ENSP00000278947.5:p.Arg135His
NM_004588.4:c.404G>A NP_004579.1:p.Arg135His
NM_004588.5:c.404G>A MANE Select NP_004579.1:p.Arg135His
Search 100 bp 5'
Search 100 bp 3'