Canonical Allele Identifier: CA345866109
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1218667
ClinVar RCV Id: RCV001593863
dbSNP Id: rs2103276343
MyVariant Identifiers: chr2:g.5833028T>C (hg19) chr2:g.5692896T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692896T>C , CM000664.2:g.5692896T>C GRCh38
NC_000002.11:g.5833028T>C , CM000664.1:g.5833028T>C GRCh37
NC_000002.10:g.5750479T>C NCBI36
NG_050751.1:g.5230T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.175T>C MANE Select ENSP00000322568.3:p.Trp59Arg
ENST00000322002.4:c.175T>C ENSP00000322568.3:p.Trp59Arg
NM_003108.3:c.175T>C NP_003099.1:p.Trp59Arg
NM_003108.4:c.175T>C MANE Select NP_003099.1:p.Trp59Arg
Search 100 bp 5'
Search 100 bp 3'