Canonical Allele Identifier: CA5797993
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs374489028
gnomAD v2: 11-1075721-C-T
gnomAD v3: 11-1075721-C-T
gnomAD v4: 11-1075721-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075721C>T , CM000673.2:g.1075721C>T GRCh38
NC_000011.9:g.1075721C>T , CM000673.1:g.1075721C>T GRCh37
NC_000011.8:g.1065721C>T NCBI36
NG_051929.1:g.5847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.174C>T
ENST00000675028.1:c.147C>T ENSP00000502432.1:p.Asp49=
NM_002457.3:c.147C>T NP_002448.3:p.Asp49=
NM_002457.4:c.147C>T NP_002448.4:p.Asp49=