Canonical Allele Identifier: CA2574993363
Gene: SCN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168045G>A , CM000673.2:g.118168045G>A GRCh38
NC_000011.9:g.118038760G>A , CM000673.1:g.118038760G>A GRCh37
NC_000011.8:g.117543970G>A NCBI36
NG_042217.1:g.13578C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.448+40C>T MANE Select ENSP00000278947.5:n.448+40C>T
ENST00000658882.1:c.*273+40C>T ENSP00000499572.1:n.*273+40C>T
ENST00000669850.1:n.690+40C>T
ENST00000278947.5:c.448+40C>T ENSP00000278947.5:n.448+40C>T
NM_004588.4:c.448+40C>T NP_004579.1:n.448+40C>T
NM_004588.5:c.448+40C>T MANE Select NP_004579.1:n.448+40C>T