Canonical Allele Identifier: CA345865884
Gene: SOX11 HGNC NCBI

Linked Data

dbSNP Id: rs1363221380
gnomAD v2: 2-5832934-G-C
gnomAD v3: 2-5692802-G-C
gnomAD v4: 2-5692802-G-C
MyVariant Identifiers: chr2:g.5832934G>C (hg19) chr2:g.5692802G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692802G>C , CM000664.2:g.5692802G>C GRCh38
NC_000002.11:g.5832934G>C , CM000664.1:g.5832934G>C GRCh37
NC_000002.10:g.5750385G>C NCBI36
NG_050751.1:g.5136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.81G>C MANE Select ENSP00000322568.3:p.Met27Ile
ENST00000322002.4:c.81G>C ENSP00000322568.3:p.Met27Ile
NM_003108.3:c.81G>C NP_003099.1:p.Met27Ile
NM_003108.4:c.81G>C MANE Select NP_003099.1:p.Met27Ile
Search 100 bp 5'
Search 100 bp 3'