Canonical Allele Identifier: CA382784595
Gene: SCN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118038842G>C (hg19) chr11:g.118168127G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168127G>C , CM000673.2:g.118168127G>C GRCh38
NC_000011.9:g.118038842G>C , CM000673.1:g.118038842G>C GRCh37
NC_000011.8:g.117544052G>C NCBI36
NG_042217.1:g.13496C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000278947.6:c.406C>G MANE Select ENSP00000278947.5:p.His136Asp
ENST00000658882.1:c.*231C>G ENSP00000499572.1:n.*231C>G
ENST00000669850.1:n.648C>G
ENST00000278947.5:c.406C>G ENSP00000278947.5:p.His136Asp
NM_004588.4:c.406C>G NP_004579.1:p.His136Asp
NM_004588.5:c.406C>G MANE Select NP_004579.1:p.His136Asp
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