Canonical Allele Identifier: CA6300535
Gene: SCN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2435692
ClinVar RCV Id: RCV003136442
dbSNP Id: rs760543488
ExAC: 11:118039451 C / T
gnomAD v2: 11-118039451-C-T
gnomAD v3: 11-118168736-C-T
gnomAD v4: 11-118168736-C-T
MyVariant Identifiers: chr11:g.118039451C>T (hg19) chr11:g.118168736C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168736C>T , CM000673.2:g.118168736C>T GRCh38
NC_000011.9:g.118039451C>T , CM000673.1:g.118039451C>T GRCh37
NC_000011.8:g.117544661C>T NCBI36
NG_042217.1:g.12887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.86G>A MANE Select ENSP00000278947.5:p.Ser29Asn
ENST00000658882.1:c.190G>A ENSP00000499572.1:p.Ala64Thr
ENST00000665446.1:n.322G>A
ENST00000669850.1:n.328G>A
ENST00000278947.5:c.86G>A ENSP00000278947.5:p.Ser29Asn
NM_004588.4:c.86G>A NP_004579.1:p.Ser29Asn
NM_004588.5:c.86G>A MANE Select NP_004579.1:p.Ser29Asn
Search 100 bp 5'
Search 100 bp 3'