Canonical Allele Identifier: CA345865952
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504995
ClinVar RCV Id: RCV003233175
MyVariant Identifiers: chr2:g.5832964C>A (hg19) chr2:g.5692832C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692832C>A , CM000664.2:g.5692832C>A GRCh38
NC_000002.11:g.5832964C>A , CM000664.1:g.5832964C>A GRCh37
NC_000002.10:g.5750415C>A NCBI36
NG_050751.1:g.5166C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.111C>A MANE Select ENSP00000322568.3:p.Ser37Arg
ENST00000322002.4:c.111C>A ENSP00000322568.3:p.Ser37Arg
NM_003108.3:c.111C>A NP_003099.1:p.Ser37Arg
NM_003108.4:c.111C>A MANE Select NP_003099.1:p.Ser37Arg
Search 100 bp 5'
Search 100 bp 3'