ClinGen Allele Registry
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Canonical Allele Identifier:
CA1947471445
Gene: MUC2
HGNC
NCBI
Linked Data - Sequence & Population
gnomAD v4:
chr11-1100037-C-A
Linked Data - NCBI & NCI
dbSNP:
7934606
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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1100037C>A , CM000673.2:g.1100037C>A
GRCh38
NG_051929.1:g.32064C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361558.7:n.9809+12C>A
ENST00000674892.1:c.256+12C>A
ENSP00000501871.1:n.256+12C>A
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