Canonical Allele Identifier: CA382769794
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168728C>A , CM000673.2:g.118168728C>A GRCh38
NC_000011.9:g.118039443C>A , CM000673.1:g.118039443C>A GRCh37
NC_000011.8:g.117544653C>A NCBI36
NG_042217.1:g.12895G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.94G>T MANE Select ENSP00000278947.5:p.Val32Phe
ENST00000658882.1:c.198G>T ENSP00000499572.1:p.Arg66Ser
ENST00000665446.1:n.330G>T
ENST00000669850.1:n.336G>T
ENST00000278947.5:c.94G>T ENSP00000278947.5:p.Val32Phe
NM_004588.4:c.94G>T NP_004579.1:p.Val32Phe
NM_004588.5:c.94G>T MANE Select NP_004579.1:p.Val32Phe