Canonical Allele Identifier: CA477080542
Gene: SCN2B HGNC NCBI

Linked Data

gnomAD v4: 11-118168651-T-G
MyVariant Identifiers: chr11:g.118039366T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168651T>G , CM000673.2:g.118168651T>G GRCh38
NC_000011.9:g.118039366T>G , CM000673.1:g.118039366T>G GRCh37
NC_000011.8:g.117544576T>G NCBI36
NG_042217.1:g.12972A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.171A>C MANE Select ENSP00000278947.5:p.Thr57=
ENST00000658882.1:c.275A>C ENSP00000499572.1:p.Gln92Pro
ENST00000665446.1:n.407A>C
ENST00000669850.1:n.413A>C
ENST00000278947.5:c.171A>C ENSP00000278947.5:p.Thr57=
NM_004588.4:c.171A>C NP_004579.1:p.Thr57=
NM_004588.5:c.171A>C MANE Select NP_004579.1:p.Thr57=
Search 100 bp 5'
Search 100 bp 3'