Canonical Allele Identifier: CA382769068
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2500083
ClinVar RCV Id: RCV003224730
gnomAD v4: 11-118168677-G-A
MyVariant Identifiers: chr11:g.118039392G>A (hg19) chr11:g.118168677G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168677G>A , CM000673.2:g.118168677G>A GRCh38
NC_000011.9:g.118039392G>A , CM000673.1:g.118039392G>A GRCh37
NC_000011.8:g.117544602G>A NCBI36
NG_042217.1:g.12946C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.145C>T MANE Select ENSP00000278947.5:p.Pro49Ser
ENST00000658882.1:c.249C>T ENSP00000499572.1:p.Cys83=
ENST00000665446.1:n.381C>T
ENST00000669850.1:n.387C>T
ENST00000278947.5:c.145C>T ENSP00000278947.5:p.Pro49Ser
NM_004588.4:c.145C>T NP_004579.1:p.Pro49Ser
NM_004588.5:c.145C>T MANE Select NP_004579.1:p.Pro49Ser
Search 100 bp 5'
Search 100 bp 3'