Canonical Allele Identifier: CA214437

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 60770
• ClinVar RCV Id: RCV000054540 ; RCV004018968
• dbSNP Id: rs72544145
• ExAC: 11:118039454 C / T
• gnomAD v2: 11-118039454-C-T
• gnomAD v3: 11-118168739-C-T
• gnomAD v4: 11-118168739-C-T
• MyVariant Identifiers: chr11:g.118039454C>T (hg19) ; chr11:g.118168739C>T (hg38)
• PubMed: PMID:19808477

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168739C>T , CM000673.2:g.118168739C>T	GRCh38
NC_000011.9:g.118039454C>T , CM000673.1:g.118039454C>T	GRCh37
NC_000011.8:g.117544664C>T	NCBI36
NG_042217.1:g.12884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.83G>A MANE Select	ENSP00000278947.5:p.Arg28Gln
ENST00000658882.1:c.187G>A	ENSP00000499572.1:p.Gly63Arg
ENST00000665446.1:n.319G>A
ENST00000669850.1:n.325G>A
ENST00000278947.5:c.83G>A	ENSP00000278947.5:p.Arg28Gln
NM_004588.4:c.83G>A	NP_004579.1:p.Arg28Gln
NM_004588.5:c.83G>A MANE Select	NP_004579.1:p.Arg28Gln