Canonical Allele Identifier: CA6300486

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 666404
• ClinVar RCV Id: RCV001869261 ; RCV002434034
• dbSNP Id: rs772817742
• ExAC: 11:118038953 C / T
• gnomAD v2: 11-118038953-C-T
• gnomAD v3: 11-118168238-C-T
• gnomAD v4: 11-118168238-C-T
• MyVariant Identifiers: chr11:g.118038953C>T (hg19) ; chr11:g.118168238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168238C>T , CM000673.2:g.118168238C>T	GRCh38
NC_000011.9:g.118038953C>T , CM000673.1:g.118038953C>T	GRCh37
NC_000011.8:g.117544163C>T	NCBI36
NG_042217.1:g.13385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.295G>A MANE Select	ENSP00000278947.5:p.Val99Met
ENST00000658882.1:c.*120G>A	ENSP00000499572.1:n.*120G>A
ENST00000665446.1:n.531G>A
ENST00000669850.1:n.537G>A
ENST00000278947.5:c.295G>A	ENSP00000278947.5:p.Val99Met
NM_004588.4:c.295G>A	NP_004579.1:p.Val99Met
NM_004588.5:c.295G>A MANE Select	NP_004579.1:p.Val99Met