Canonical Allele Identifier: CA382768949

Gene: SCN2B

Linked Data

• MyVariant Identifiers: chr11:g.118039360G>T (hg19) ; chr11:g.118168645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168645G>T , CM000673.2:g.118168645G>T	GRCh38
NC_000011.9:g.118039360G>T , CM000673.1:g.118039360G>T	GRCh37
NC_000011.8:g.117544570G>T	NCBI36
NG_042217.1:g.12978C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.177C>A MANE Select	ENSP00000278947.5:p.Asn59Lys
ENST00000658882.1:c.*2C>A	ENSP00000499572.1:n.*2C>A
ENST00000665446.1:n.413C>A
ENST00000669850.1:n.419C>A
ENST00000278947.5:c.177C>A	ENSP00000278947.5:p.Asn59Lys
NM_004588.4:c.177C>A	NP_004579.1:p.Asn59Lys
NM_004588.5:c.177C>A MANE Select	NP_004579.1:p.Asn59Lys