Canonical Allele Identifier: CA6300493

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 408876
• ClinVar RCV Id: RCV000472431 ; RCV002436428
• dbSNP Id: rs760669515
• ExAC: 11:118038998 G / A
• gnomAD v2: 11-118038998-G-A
• gnomAD v3: 11-118168283-G-A
• gnomAD v4: 11-118168283-G-A
• MyVariant Identifiers: chr11:g.118038998G>A (hg19) ; chr11:g.118168283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168283G>A , CM000673.2:g.118168283G>A	GRCh38
NC_000011.9:g.118038998G>A , CM000673.1:g.118038998G>A	GRCh37
NC_000011.8:g.117544208G>A	NCBI36
NG_042217.1:g.13340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.250C>T MANE Select	ENSP00000278947.5:p.Arg84Cys
ENST00000658882.1:c.*75C>T	ENSP00000499572.1:n.*75C>T
ENST00000665446.1:n.486C>T
ENST00000669850.1:n.492C>T
ENST00000278947.5:c.250C>T	ENSP00000278947.5:p.Arg84Cys
NM_004588.4:c.250C>T	NP_004579.1:p.Arg84Cys
NM_004588.5:c.250C>T MANE Select	NP_004579.1:p.Arg84Cys