Canonical Allele Identifier: CA477080588
Gene: SCN2B HGNC NCBI

Linked Data

dbSNP Id: rs1591444971
MyVariant Identifiers: chr11:g.118039435T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118168720T>C , CM000673.2:g.118168720T>C GRCh38
NC_000011.9:g.118039435T>C , CM000673.1:g.118039435T>C GRCh37
NC_000011.8:g.117544645T>C NCBI36
NG_042217.1:g.12903A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278947.6:c.102A>G MANE Select ENSP00000278947.5:p.Val34=
ENST00000658882.1:c.206A>G ENSP00000499572.1:p.Tyr69Cys
ENST00000665446.1:n.338A>G
ENST00000669850.1:n.344A>G
ENST00000278947.5:c.102A>G ENSP00000278947.5:p.Val34=
NM_004588.4:c.102A>G NP_004579.1:p.Val34=
NM_004588.5:c.102A>G MANE Select NP_004579.1:p.Val34=
Search 100 bp 5'
Search 100 bp 3'