Canonical Allele Identifier: CA2616231642

Gene: SCN2B

Linked Data

• gnomAD v4: 11-118168042-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168042G>T , CM000673.2:g.118168042G>T	GRCh38
NC_000011.9:g.118038757G>T , CM000673.1:g.118038757G>T	GRCh37
NC_000011.8:g.117543967G>T	NCBI36
NG_042217.1:g.13581C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278947.6:c.448+43C>A MANE Select	ENSP00000278947.5:n.448+43C>A
ENST00000658882.1:c.*273+43C>A	ENSP00000499572.1:n.*273+43C>A
ENST00000669850.1:n.690+43C>A
ENST00000278947.5:c.448+43C>A	ENSP00000278947.5:n.448+43C>A
NM_004588.4:c.448+43C>A	NP_004579.1:n.448+43C>A
NM_004588.5:c.448+43C>A MANE Select	NP_004579.1:n.448+43C>A