Canonical Allele Identifier: CA345865881
Gene: SOX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2507151
ClinVar RCV Id: RCV003239042
dbSNP Id: rs1481974602
gnomAD v3: 2-5692801-T-C
gnomAD v4: 2-5692801-T-C
MyVariant Identifiers: chr2:g.5832933T>C (hg19) chr2:g.5692801T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692801T>C , CM000664.2:g.5692801T>C GRCh38
NC_000002.11:g.5832933T>C , CM000664.1:g.5832933T>C GRCh37
NC_000002.10:g.5750384T>C NCBI36
NG_050751.1:g.5135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.80T>C MANE Select ENSP00000322568.3:p.Met27Thr
ENST00000322002.4:c.80T>C ENSP00000322568.3:p.Met27Thr
NM_003108.3:c.80T>C NP_003099.1:p.Met27Thr
NM_003108.4:c.80T>C MANE Select NP_003099.1:p.Met27Thr
Search 100 bp 5'
Search 100 bp 3'