Canonical Allele Identifier: CA382769764
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1794703
ClinVar RCV Id: RCV002437332 RCV003102109
dbSNP Id: rs1451432673
gnomAD v2: 11-118039427-G-A
gnomAD v4: 11-118168712-G-A
COSMIC: COSM1704608
MyVariant Identifiers: chr11:g.118039427G>A (hg19) chr11:g.118168712G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168712G>A , CM000673.2:g.118168712G>A GRCh38
NC_000011.9:g.118039427G>A , CM000673.1:g.118039427G>A GRCh37
NC_000011.8:g.117544637G>A NCBI36
NG_042217.1:g.12911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.110C>T MANE Select ENSP00000278947.5:p.Thr37Ile
ENST00000658882.1:c.214C>T ENSP00000499572.1:p.Pro72Ser
ENST00000665446.1:n.346C>T
ENST00000669850.1:n.352C>T
ENST00000278947.5:c.110C>T ENSP00000278947.5:p.Thr37Ile
NM_004588.4:c.110C>T NP_004579.1:p.Thr37Ile
NM_004588.5:c.110C>T MANE Select NP_004579.1:p.Thr37Ile
Search 100 bp 5'
Search 100 bp 3'