Canonical Allele Identifier: CA472358748
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs752974471
gnomAD v2: 11-1075728-G-T
gnomAD v4: 11-1075728-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075728G>T , CM000673.2:g.1075728G>T GRCh38
NC_000011.9:g.1075728G>T , CM000673.1:g.1075728G>T GRCh37
NC_000011.8:g.1065728G>T NCBI36
NG_051929.1:g.5854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.181G>T
ENST00000675028.1:c.154G>T ENSP00000502432.1:p.Val52Phe
NM_002457.3:c.154G>T NP_002448.3:p.Val52Phe
NM_002457.4:c.154G>T NP_002448.4:p.Val52Phe