Canonical Allele Identifier: CA477080564
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118039399G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168684G>T , CM000673.2:g.118168684G>T GRCh38
NC_000011.9:g.118039399G>T , CM000673.1:g.118039399G>T GRCh37
NC_000011.8:g.117544609G>T NCBI36
NG_042217.1:g.12939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.138C>A MANE Select ENSP00000278947.5:p.Ala46=
ENST00000658882.1:c.242C>A ENSP00000499572.1:p.Pro81His
ENST00000665446.1:n.374C>A
ENST00000669850.1:n.380C>A
ENST00000278947.5:c.138C>A ENSP00000278947.5:p.Ala46=
NM_004588.4:c.138C>A NP_004579.1:p.Ala46=
NM_004588.5:c.138C>A MANE Select NP_004579.1:p.Ala46=
Search 100 bp 5'
Search 100 bp 3'