Canonical Allele Identifier: CA382769049
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168668A>C , CM000673.2:g.118168668A>C GRCh38
NC_000011.9:g.118039383A>C , CM000673.1:g.118039383A>C GRCh37
NC_000011.8:g.117544593A>C NCBI36
NG_042217.1:g.12955T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.154T>G MANE Select ENSP00000278947.5:p.Phe52Val
ENST00000658882.1:c.258T>G ENSP00000499572.1:p.Pro86=
ENST00000665446.1:n.390T>G
ENST00000669850.1:n.396T>G
ENST00000278947.5:c.154T>G ENSP00000278947.5:p.Phe52Val
NM_004588.4:c.154T>G NP_004579.1:p.Phe52Val
NM_004588.5:c.154T>G MANE Select NP_004579.1:p.Phe52Val