Canonical Allele Identifier: CA5797990
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs72652891
gnomAD v2: 11-1075712-G-A
gnomAD v3: 11-1075712-G-A
gnomAD v4: 11-1075712-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075712G>A , CM000673.2:g.1075712G>A GRCh38
NC_000011.9:g.1075712G>A , CM000673.1:g.1075712G>A GRCh37
NC_000011.8:g.1065712G>A NCBI36
NG_051929.1:g.5838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.165G>A
ENST00000675028.1:c.138G>A ENSP00000502432.1:p.Lys46=
NM_002457.3:c.138G>A NP_002448.3:p.Lys46=
NM_002457.4:c.138G>A NP_002448.4:p.Lys46=