×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16042463
Gene: SOX11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373066
ClinVar RCV Id:
RCV000414399
dbSNP Id:
rs1057518187
MyVariant Identifiers:
chr2:g.5833447C>A (hg19)
chr2:g.5693315C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.5693315C>A , CM000664.2:g.5693315C>A
GRCh38
NC_000002.11:g.5833447C>A , CM000664.1:g.5833447C>A
GRCh37
NC_000002.10:g.5750898C>A
NCBI36
NG_050751.1:g.5649C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000322002.5:c.594C>A
MANE Select
ENSP00000322568.3:p.Tyr198Ter
ENST00000322002.4:c.594C>A
ENSP00000322568.3:p.Tyr198Ter
NM_003108.3:c.594C>A
NP_003099.1:p.Tyr198Ter
NM_003108.4:c.594C>A
MANE Select
NP_003099.1:p.Tyr198Ter
Search 100 bp 5'
Search 100 bp 3'