ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA217001326
Gene: MUC2
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr11:g.1100037C>T
Linked Data - Sequence & Population
gnomAD v3:
11:1100037 C / T
gnomAD v4:
chr11-1100037-C-T
Joint Max Group AF
0.4213319 (NFE)
Genomes Max Group AF
0.41371464 (NFE)
Exomes Max Group AF
0.42158225 (NFE)
Linked Data - NCBI & NCI
dbSNP:
7934606
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1100037C>T , CM000673.2:g.1100037C>T
GRCh38
NG_051929.1:g.32064C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361558.7:n.9809+12C>T
ENST00000674892.1:c.256+12C>T
ENSP00000501871.1:n.256+12C>T
Search 100 bp 5'
Search 100 bp 3'