Canonical Allele Identifier: CA6300533
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 567878
ClinVar RCV Id: RCV000688074
dbSNP Id: rs767173208
ExAC: 11:118039444 C / A
gnomAD v2: 11-118039444-C-A
gnomAD v3: 11-118168729-C-A
gnomAD v4: 11-118168729-C-A
MyVariant Identifiers: chr11:g.118039444C>A (hg19) chr11:g.118168729C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168729C>A , CM000673.2:g.118168729C>A GRCh38
NC_000011.9:g.118039444C>A , CM000673.1:g.118039444C>A GRCh37
NC_000011.8:g.117544654C>A NCBI36
NG_042217.1:g.12894G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.93G>T MANE Select ENSP00000278947.5:p.Glu31Asp
ENST00000658882.1:c.197G>T ENSP00000499572.1:p.Arg66Met
ENST00000665446.1:n.329G>T
ENST00000669850.1:n.335G>T
ENST00000278947.5:c.93G>T ENSP00000278947.5:p.Glu31Asp
NM_004588.4:c.93G>T NP_004579.1:p.Glu31Asp
NM_004588.5:c.93G>T MANE Select NP_004579.1:p.Glu31Asp
Search 100 bp 5'
Search 100 bp 3'