Canonical Allele Identifier: CA2616231633
Gene: SCN2B HGNC NCBI

Linked Data

gnomAD v4: 11-118168025-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168025C>T , CM000673.2:g.118168025C>T GRCh38
NC_000011.9:g.118038740C>T , CM000673.1:g.118038740C>T GRCh37
NC_000011.8:g.117543950C>T NCBI36
NG_042217.1:g.13598G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.448+60G>A MANE Select ENSP00000278947.5:n.448+60G>A
ENST00000658882.1:c.*273+60G>A ENSP00000499572.1:n.*273+60G>A
ENST00000669850.1:n.690+60G>A
ENST00000278947.5:c.448+60G>A ENSP00000278947.5:n.448+60G>A
NM_004588.4:c.448+60G>A NP_004579.1:n.448+60G>A
NM_004588.5:c.448+60G>A MANE Select NP_004579.1:n.448+60G>A
Search 100 bp 5'
Search 100 bp 3'