Canonical Allele Identifier: CA2616231637
Gene: SCN2B HGNC NCBI

Linked Data

gnomAD v4: 11-118168037-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168037G>A , CM000673.2:g.118168037G>A GRCh38
NC_000011.9:g.118038752G>A , CM000673.1:g.118038752G>A GRCh37
NC_000011.8:g.117543962G>A NCBI36
NG_042217.1:g.13586C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.448+48C>T MANE Select ENSP00000278947.5:n.448+48C>T
ENST00000658882.1:c.*273+48C>T ENSP00000499572.1:n.*273+48C>T
ENST00000669850.1:n.690+48C>T
ENST00000278947.5:c.448+48C>T ENSP00000278947.5:n.448+48C>T
NM_004588.4:c.448+48C>T NP_004579.1:n.448+48C>T
NM_004588.5:c.448+48C>T MANE Select NP_004579.1:n.448+48C>T
Search 100 bp 5'
Search 100 bp 3'