Canonical Allele Identifier: CA345866043
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 3049183
ClinVar RCV Id: RCV003959061
MyVariant Identifiers: chr2:g.5833001A>G (hg19) chr2:g.5692869A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692869A>G , CM000664.2:g.5692869A>G GRCh38
NC_000002.11:g.5833001A>G , CM000664.1:g.5833001A>G GRCh37
NC_000002.10:g.5750452A>G NCBI36
NG_050751.1:g.5203A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.148A>G MANE Select ENSP00000322568.3:p.Lys50Glu
ENST00000322002.4:c.148A>G ENSP00000322568.3:p.Lys50Glu
NM_003108.3:c.148A>G NP_003099.1:p.Lys50Glu
NM_003108.4:c.148A>G MANE Select NP_003099.1:p.Lys50Glu
Search 100 bp 5'
Search 100 bp 3'