Canonical Allele Identifier: CA382769144
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118039416G>T (hg19) chr11:g.118168701G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168701G>T , CM000673.2:g.118168701G>T GRCh38
NC_000011.9:g.118039416G>T , CM000673.1:g.118039416G>T GRCh37
NC_000011.8:g.117544626G>T NCBI36
NG_042217.1:g.12922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.121C>A MANE Select ENSP00000278947.5:p.Leu41Ile
ENST00000658882.1:c.225C>A ENSP00000499572.1:p.Ser75=
ENST00000665446.1:n.357C>A
ENST00000669850.1:n.363C>A
ENST00000278947.5:c.121C>A ENSP00000278947.5:p.Leu41Ile
NM_004588.4:c.121C>A NP_004579.1:p.Leu41Ile
NM_004588.5:c.121C>A MANE Select NP_004579.1:p.Leu41Ile
Search 100 bp 5'
Search 100 bp 3'