Canonical Allele Identifier: CA477080552

Gene: SCN2B

Linked Data

• MyVariant Identifiers: chr11:g.118039384G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118168669G>T , CM000673.2:g.118168669G>T	GRCh38
NC_000011.9:g.118039384G>T , CM000673.1:g.118039384G>T	GRCh37
NC_000011.8:g.117544594G>T	NCBI36
NG_042217.1:g.12954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278947.6:c.153C>A MANE Select	ENSP00000278947.5:p.Thr51=
ENST00000658882.1:c.257C>A	ENSP00000499572.1:p.Pro86His
ENST00000665446.1:n.389C>A
ENST00000669850.1:n.395C>A
ENST00000278947.5:c.153C>A	ENSP00000278947.5:p.Thr51=
NM_004588.4:c.153C>A	NP_004579.1:p.Thr51=
NM_004588.5:c.153C>A MANE Select	NP_004579.1:p.Thr51=