Canonical Allele Identifier: CA6300517

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 408875
• ClinVar RCV Id: RCV000464872 ; RCV002393126
• dbSNP Id: rs17121818
• ExAC: 11:118039397 C / T
• gnomAD v2: 11-118039397-C-T
• gnomAD v3: 11-118168682-C-T
• gnomAD v4: 11-118168682-C-T
• MyVariant Identifiers: chr11:g.118039397C>T (hg19) ; chr11:g.118168682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168682C>T , CM000673.2:g.118168682C>T	GRCh38
NC_000011.9:g.118039397C>T , CM000673.1:g.118039397C>T	GRCh37
NC_000011.8:g.117544607C>T	NCBI36
NG_042217.1:g.12941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.140G>A MANE Select	ENSP00000278947.5:p.Arg47His
ENST00000658882.1:c.244G>A	ENSP00000499572.1:p.Ala82Thr
ENST00000665446.1:n.376G>A
ENST00000669850.1:n.382G>A
ENST00000278947.5:c.140G>A	ENSP00000278947.5:p.Arg47His
NM_004588.4:c.140G>A	NP_004579.1:p.Arg47His
NM_004588.5:c.140G>A MANE Select	NP_004579.1:p.Arg47His