Canonical Allele Identifier: CA424762859

Gene: SOX11

Linked Data

• dbSNP Id: rs1434795736
• gnomAD v2: 2-5832982-G-A
• gnomAD v4: 2-5692850-G-A
• MyVariant Identifiers: chr2:g.5832982G>A (hg19) ; chr2:g.5692850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.5692850G>A , CM000664.2:g.5692850G>A	GRCh38
NC_000002.11:g.5832982G>A , CM000664.1:g.5832982G>A	GRCh37
NC_000002.10:g.5750433G>A	NCBI36
NG_050751.1:g.5184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322002.5:c.129G>A MANE Select	ENSP00000322568.3:p.Lys43=
ENST00000322002.4:c.129G>A	ENSP00000322568.3:p.Lys43=
NM_003108.3:c.129G>A	NP_003099.1:p.Lys43=
NM_003108.4:c.129G>A MANE Select	NP_003099.1:p.Lys43=