Canonical Allele Identifier: CA345866266
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332805
ClinVar RCV Id: RCV001806379
dbSNP Id: rs1553327809
MyVariant Identifiers: chr2:g.5833092C>T (hg19) chr2:g.5692960C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692960C>T , CM000664.2:g.5692960C>T GRCh38
NC_000002.11:g.5833092C>T , CM000664.1:g.5833092C>T GRCh37
NC_000002.10:g.5750543C>T NCBI36
NG_050751.1:g.5294C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.239C>T MANE Select ENSP00000322568.3:p.Ser80Phe
ENST00000322002.4:c.239C>T ENSP00000322568.3:p.Ser80Phe
NM_003108.3:c.239C>T NP_003099.1:p.Ser80Phe
NM_003108.4:c.239C>T MANE Select NP_003099.1:p.Ser80Phe
Search 100 bp 5'
Search 100 bp 3'