Canonical Allele Identifier: CA214437
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 60770
ClinVar RCV Id: RCV000054540 RCV004018968
dbSNP Id: rs72544145
ExAC: 11:118039454 C / T
gnomAD v2: 11-118039454-C-T
gnomAD v3: 11-118168739-C-T
gnomAD v4: 11-118168739-C-T
MyVariant Identifiers: chr11:g.118039454C>T (hg19) chr11:g.118168739C>T (hg38)
PubMed: PMID:19808477
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168739C>T , CM000673.2:g.118168739C>T GRCh38
NC_000011.9:g.118039454C>T , CM000673.1:g.118039454C>T GRCh37
NC_000011.8:g.117544664C>T NCBI36
NG_042217.1:g.12884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.83G>A MANE Select ENSP00000278947.5:p.Arg28Gln
ENST00000658882.1:c.187G>A ENSP00000499572.1:p.Gly63Arg
ENST00000665446.1:n.319G>A
ENST00000669850.1:n.325G>A
ENST00000278947.5:c.83G>A ENSP00000278947.5:p.Arg28Gln
NM_004588.4:c.83G>A NP_004579.1:p.Arg28Gln
NM_004588.5:c.83G>A MANE Select NP_004579.1:p.Arg28Gln
Search 100 bp 5'
Search 100 bp 3'