Canonical Allele Identifier: CA216977034
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs1001858531
gnomAD v2: 11-1075834-C-A
gnomAD v3: 11-1075834-C-A
gnomAD v4: 11-1075834-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075834C>A , CM000673.2:g.1075834C>A GRCh38
NC_000011.9:g.1075834C>A , CM000673.1:g.1075834C>A GRCh37
NC_000011.8:g.1065834C>A NCBI36
NG_051929.1:g.5960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.287C>A
ENST00000675028.1:c.260C>A ENSP00000502432.1:p.Ala87Asp
NM_002457.3:c.260C>A NP_002448.3:p.Ala87Asp
NM_002457.4:c.260C>A NP_002448.4:p.Ala87Asp