Canonical Allele Identifier: CA382769119
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168697T>A , CM000673.2:g.118168697T>A GRCh38
NC_000011.9:g.118039412T>A , CM000673.1:g.118039412T>A GRCh37
NC_000011.8:g.117544622T>A NCBI36
NG_042217.1:g.12926A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.125A>T MANE Select ENSP00000278947.5:p.Asn42Ile
ENST00000658882.1:c.229A>T ENSP00000499572.1:p.Met77Leu
ENST00000665446.1:n.361A>T
ENST00000669850.1:n.367A>T
ENST00000278947.5:c.125A>T ENSP00000278947.5:p.Asn42Ile
NM_004588.4:c.125A>T NP_004579.1:p.Asn42Ile
NM_004588.5:c.125A>T MANE Select NP_004579.1:p.Asn42Ile