Canonical Allele Identifier: CA5798002
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs780677209
gnomAD v2: 11-1075742-C-T
gnomAD v3: 11-1075742-C-T
gnomAD v4: 11-1075742-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075742C>T , CM000673.2:g.1075742C>T GRCh38
NC_000011.9:g.1075742C>T , CM000673.1:g.1075742C>T GRCh37
NC_000011.8:g.1065742C>T NCBI36
NG_051929.1:g.5868C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.195C>T
ENST00000675028.1:c.168C>T ENSP00000502432.1:p.Pro56=
NM_002457.3:c.168C>T NP_002448.3:p.Pro56=
NM_002457.4:c.168C>T NP_002448.4:p.Pro56=