Canonical Allele Identifier: CA477080580
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118039426G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168711G>C , CM000673.2:g.118168711G>C GRCh38
NC_000011.9:g.118039426G>C , CM000673.1:g.118039426G>C GRCh37
NC_000011.8:g.117544636G>C NCBI36
NG_042217.1:g.12912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.111C>G MANE Select ENSP00000278947.5:p.Thr37=
ENST00000658882.1:c.215C>G ENSP00000499572.1:p.Pro72Arg
ENST00000665446.1:n.347C>G
ENST00000669850.1:n.353C>G
ENST00000278947.5:c.111C>G ENSP00000278947.5:p.Thr37=
NM_004588.4:c.111C>G NP_004579.1:p.Thr37=
NM_004588.5:c.111C>G MANE Select NP_004579.1:p.Thr37=