Canonical Allele Identifier: CA477080559

Gene: SCN2B

Linked Data

• gnomAD v4: 11-118168680-G-A
• MyVariant Identifiers: chr11:g.118039395G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168680G>A , CM000673.2:g.118168680G>A	GRCh38
NC_000011.9:g.118039395G>A , CM000673.1:g.118039395G>A	GRCh37
NC_000011.8:g.117544605G>A	NCBI36
NG_042217.1:g.12943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.142C>T MANE Select	ENSP00000278947.5:p.Leu48=
ENST00000658882.1:c.246C>T	ENSP00000499572.1:p.Ala82=
ENST00000665446.1:n.378C>T
ENST00000669850.1:n.384C>T
ENST00000278947.5:c.142C>T	ENSP00000278947.5:p.Leu48=
NM_004588.4:c.142C>T	NP_004579.1:p.Leu48=
NM_004588.5:c.142C>T MANE Select	NP_004579.1:p.Leu48=