Canonical Allele Identifier: CA472358329
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs1398511690
gnomAD v2: 11-1075687-G-A
gnomAD v4: 11-1075687-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075687G>A , CM000673.2:g.1075687G>A GRCh38
NC_000011.9:g.1075687G>A , CM000673.1:g.1075687G>A GRCh37
NC_000011.8:g.1065687G>A NCBI36
NG_051929.1:g.5813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.140G>A
ENST00000675028.1:c.113G>A ENSP00000502432.1:p.Ser38Asn
NM_002457.3:c.113G>A NP_002448.3:p.Ser38Asn
NM_002457.4:c.113G>A NP_002448.4:p.Ser38Asn