Canonical Allele Identifier: CA6300436

Gene: SCN2B

Linked Data

• ClinVar Variation Id: 259446
• ClinVar RCV Id: RCV000246069 ; RCV001807167
• dbSNP Id: rs8192613
• ExAC: 11:118037813 G / T
• gnomAD v2: 11-118037813-G-T
• gnomAD v3: 11-118167098-G-T
• gnomAD v4: 11-118167098-G-T
• MyVariant Identifiers: chr11:g.118037813G>T (hg19) ; chr11:g.118167098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118167098G>T , CM000673.2:g.118167098G>T	GRCh38
NC_000011.9:g.118037813G>T , CM000673.1:g.118037813G>T	GRCh37
NC_000011.8:g.117543023G>T	NCBI36
NG_042217.1:g.14525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.449-12C>A MANE Select	ENSP00000278947.5:n.449-12C>A
ENST00000658882.1:c.*274-12C>A	ENSP00000499572.1:n.*274-12C>A
ENST00000669850.1:n.691-12C>A
ENST00000278947.5:c.449-12C>A	ENSP00000278947.5:n.449-12C>A
NM_004588.4:c.449-12C>A	NP_004579.1:n.449-12C>A
NM_004588.5:c.449-12C>A MANE Select	NP_004579.1:n.449-12C>A