Canonical Allele Identifier: CA477080562
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118039396G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168681G>T , CM000673.2:g.118168681G>T GRCh38
NC_000011.9:g.118039396G>T , CM000673.1:g.118039396G>T GRCh37
NC_000011.8:g.117544606G>T NCBI36
NG_042217.1:g.12942C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.141C>A MANE Select ENSP00000278947.5:p.Arg47=
ENST00000658882.1:c.245C>A ENSP00000499572.1:p.Ala82Asp
ENST00000665446.1:n.377C>A
ENST00000669850.1:n.383C>A
ENST00000278947.5:c.141C>A ENSP00000278947.5:p.Arg47=
NM_004588.4:c.141C>A NP_004579.1:p.Arg47=
NM_004588.5:c.141C>A MANE Select NP_004579.1:p.Arg47=