Canonical Allele Identifier: CA6300516
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs754696155
ExAC: 11:118039390 G / A
gnomAD v2: 11-118039390-G-A
COSMIC: COSM1604157
MyVariant Identifiers: chr11:g.118039390G>A (hg19) chr11:g.118168675G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168675G>A , CM000673.2:g.118168675G>A GRCh38
NC_000011.9:g.118039390G>A , CM000673.1:g.118039390G>A GRCh37
NC_000011.8:g.117544600G>A NCBI36
NG_042217.1:g.12948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.147C>T MANE Select ENSP00000278947.5:p.Pro49=
ENST00000658882.1:c.251C>T ENSP00000499572.1:p.Pro84Leu
ENST00000665446.1:n.383C>T
ENST00000669850.1:n.389C>T
ENST00000278947.5:c.147C>T ENSP00000278947.5:p.Pro49=
NM_004588.4:c.147C>T NP_004579.1:p.Pro49=
NM_004588.5:c.147C>T MANE Select NP_004579.1:p.Pro49=
Search 100 bp 5'
Search 100 bp 3'