Canonical Allele Identifier: CA382768918
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs1555100901
gnomAD v4: 11-118168641-T-A
MyVariant Identifiers: chr11:g.118039356T>A (hg19) chr11:g.118168641T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168641T>A , CM000673.2:g.118168641T>A GRCh38
NC_000011.9:g.118039356T>A , CM000673.1:g.118039356T>A GRCh37
NC_000011.8:g.117544566T>A NCBI36
NG_042217.1:g.12982A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.181A>T MANE Select ENSP00000278947.5:p.Lys61Ter
ENST00000658882.1:c.*6A>T ENSP00000499572.1:n.*6A>T
ENST00000665446.1:n.417A>T
ENST00000669850.1:n.423A>T
ENST00000278947.5:c.181A>T ENSP00000278947.5:p.Lys61Ter
NM_004588.4:c.181A>T NP_004579.1:p.Lys61Ter
NM_004588.5:c.181A>T MANE Select NP_004579.1:p.Lys61Ter
Search 100 bp 5'
Search 100 bp 3'