Canonical Allele Identifier: CA382769810
Gene: SCN2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168734T>C , CM000673.2:g.118168734T>C GRCh38
NC_000011.9:g.118039449T>C , CM000673.1:g.118039449T>C GRCh37
NC_000011.8:g.117544659T>C NCBI36
NG_042217.1:g.12889A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.88A>G MANE Select ENSP00000278947.5:p.Met30Val
ENST00000658882.1:c.192A>G ENSP00000499572.1:p.Ala64=
ENST00000665446.1:n.324A>G
ENST00000669850.1:n.330A>G
ENST00000278947.5:c.88A>G ENSP00000278947.5:p.Met30Val
NM_004588.4:c.88A>G NP_004579.1:p.Met30Val
NM_004588.5:c.88A>G MANE Select NP_004579.1:p.Met30Val