Canonical Allele Identifier: CA6300424
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 264461
ClinVar RCV Id: RCV000249593 RCV001854995
dbSNP Id: rs774317271
ExAC: 11:118037772 C / T
gnomAD v2: 11-118037772-C-T
gnomAD v3: 11-118167057-C-T
gnomAD v4: 11-118167057-C-T
MyVariant Identifiers: chr11:g.118037772C>T (hg19) chr11:g.118167057C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118167057C>T , CM000673.2:g.118167057C>T GRCh38
NC_000011.9:g.118037772C>T , CM000673.1:g.118037772C>T GRCh37
NC_000011.8:g.117542982C>T NCBI36
NG_042217.1:g.14566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.478G>A MANE Select ENSP00000278947.5:p.Val160Met
ENST00000658882.1:c.*303G>A ENSP00000499572.1:n.*303G>A
ENST00000669850.1:n.720G>A
ENST00000278947.5:c.478G>A ENSP00000278947.5:p.Val160Met
NM_004588.4:c.478G>A NP_004579.1:p.Val160Met
NM_004588.5:c.478G>A MANE Select NP_004579.1:p.Val160Met
Search 100 bp 5'
Search 100 bp 3'