Canonical Allele Identifier: CA217001326
Gene: MUC2 HGNC NCBI
gnomAD v4:

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