Canonical Allele Identifier: CA1517802
Gene: SOX11 HGNC NCBI

Linked Data

dbSNP Id: rs763782642
ExAC: 2:5832970 A / G
gnomAD v2: 2-5832970-A-G
gnomAD v4: 2-5692838-A-G
MyVariant Identifiers: chr2:g.5832970A>G (hg19) chr2:g.5692838A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692838A>G , CM000664.2:g.5692838A>G GRCh38
NC_000002.11:g.5832970A>G , CM000664.1:g.5832970A>G GRCh37
NC_000002.10:g.5750421A>G NCBI36
NG_050751.1:g.5172A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.117A>G MANE Select ENSP00000322568.3:p.Pro39=
ENST00000322002.4:c.117A>G ENSP00000322568.3:p.Pro39=
NM_003108.3:c.117A>G NP_003099.1:p.Pro39=
NM_003108.4:c.117A>G MANE Select NP_003099.1:p.Pro39=
Search 100 bp 5'
Search 100 bp 3'