Canonical Allele Identifier: CA671494435
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1100037C>G
gnomAD v3:
11:1100037 C / G
gnomAD v4:
chr11-1100037-C-G
Joint Max Group AF 0.00001316 (NFE)
Exomes Max Group AF 0.00001314 (NFE)
dbSNP:
7934606
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1100037C>G , CM000673.2:g.1100037C>G GRCh38
NG_051929.1:g.32064C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.9809+12C>G
ENST00000674892.1:c.256+12C>G ENSP00000501871.1:n.256+12C>G
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