Canonical Allele Identifier: CA345866029
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1301272
ClinVar RCV Id: RCV001732804 RCV003150830
dbSNP Id: rs2103276319
MyVariant Identifiers: chr2:g.5832995C>G (hg19) chr2:g.5692863C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692863C>G , CM000664.2:g.5692863C>G GRCh38
NC_000002.11:g.5832995C>G , CM000664.1:g.5832995C>G GRCh37
NC_000002.10:g.5750446C>G NCBI36
NG_050751.1:g.5197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.142C>G MANE Select ENSP00000322568.3:p.His48Asp
ENST00000322002.4:c.142C>G ENSP00000322568.3:p.His48Asp
NM_003108.3:c.142C>G NP_003099.1:p.His48Asp
NM_003108.4:c.142C>G MANE Select NP_003099.1:p.His48Asp
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