Canonical Allele Identifier: CA382769069
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168677G>C , CM000673.2:g.118168677G>C GRCh38
NC_000011.9:g.118039392G>C , CM000673.1:g.118039392G>C GRCh37
NC_000011.8:g.117544602G>C NCBI36
NG_042217.1:g.12946C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.145C>G MANE Select ENSP00000278947.5:p.Pro49Ala
ENST00000658882.1:c.249C>G ENSP00000499572.1:p.Cys83Trp
ENST00000665446.1:n.381C>G
ENST00000669850.1:n.387C>G
ENST00000278947.5:c.145C>G ENSP00000278947.5:p.Pro49Ala
NM_004588.4:c.145C>G NP_004579.1:p.Pro49Ala
NM_004588.5:c.145C>G MANE Select NP_004579.1:p.Pro49Ala