Canonical Allele Identifier: CA477080538
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs1466393906
gnomAD v2: 11-118039360-G-A
gnomAD v4: 11-118168645-G-A
MyVariant Identifiers: chr11:g.118039360G>A (hg19) chr11:g.118168645G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168645G>A , CM000673.2:g.118168645G>A GRCh38
NC_000011.9:g.118039360G>A , CM000673.1:g.118039360G>A GRCh37
NC_000011.8:g.117544570G>A NCBI36
NG_042217.1:g.12978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.177C>T MANE Select ENSP00000278947.5:p.Asn59=
ENST00000658882.1:c.*2C>T ENSP00000499572.1:n.*2C>T
ENST00000665446.1:n.413C>T
ENST00000669850.1:n.419C>T
ENST00000278947.5:c.177C>T ENSP00000278947.5:p.Asn59=
NM_004588.4:c.177C>T NP_004579.1:p.Asn59=
NM_004588.5:c.177C>T MANE Select NP_004579.1:p.Asn59=
Search 100 bp 5'
Search 100 bp 3'