Canonical Allele Identifier: CA382769097
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118039407A>T (hg19) chr11:g.118168692A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168692A>T , CM000673.2:g.118168692A>T GRCh38
NC_000011.9:g.118039407A>T , CM000673.1:g.118039407A>T GRCh37
NC_000011.8:g.117544617A>T NCBI36
NG_042217.1:g.12931T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.130T>A MANE Select ENSP00000278947.5:p.Ser44Thr
ENST00000658882.1:c.234T>A ENSP00000499572.1:p.Ala78=
ENST00000665446.1:n.366T>A
ENST00000669850.1:n.372T>A
ENST00000278947.5:c.130T>A ENSP00000278947.5:p.Ser44Thr
NM_004588.4:c.130T>A NP_004579.1:p.Ser44Thr
NM_004588.5:c.130T>A MANE Select NP_004579.1:p.Ser44Thr
Search 100 bp 5'
Search 100 bp 3'