Canonical Allele Identifier: CA1517803
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954099
ClinVar RCV Id: RCV002705354
dbSNP Id: rs753494944
ExAC: 2:5832991 G / C
gnomAD v2: 2-5832991-G-C
gnomAD v3: 2-5692859-G-C
gnomAD v4: 2-5692859-G-C
MyVariant Identifiers: chr2:g.5832991G>C (hg19) chr2:g.5692859G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692859G>C , CM000664.2:g.5692859G>C GRCh38
NC_000002.11:g.5832991G>C , CM000664.1:g.5832991G>C GRCh37
NC_000002.10:g.5750442G>C NCBI36
NG_050751.1:g.5193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.138G>C MANE Select ENSP00000322568.3:p.Ser46=
ENST00000322002.4:c.138G>C ENSP00000322568.3:p.Ser46=
NM_003108.3:c.138G>C NP_003099.1:p.Ser46=
NM_003108.4:c.138G>C MANE Select NP_003099.1:p.Ser46=
Search 100 bp 5'
Search 100 bp 3'