Canonical Allele Identifier: CA382784583
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168126T>G , CM000673.2:g.118168126T>G GRCh38
NC_000011.9:g.118038841T>G , CM000673.1:g.118038841T>G GRCh37
NC_000011.8:g.117544051T>G NCBI36
NG_042217.1:g.13497A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.407A>C MANE Select ENSP00000278947.5:p.His136Pro
ENST00000658882.1:c.*232A>C ENSP00000499572.1:n.*232A>C
ENST00000669850.1:n.649A>C
ENST00000278947.5:c.407A>C ENSP00000278947.5:p.His136Pro
NM_004588.4:c.407A>C NP_004579.1:p.His136Pro
NM_004588.5:c.407A>C MANE Select NP_004579.1:p.His136Pro