Canonical Allele Identifier: CA5797983
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs746982607
gnomAD v2: 11-1075688-C-G
gnomAD v4: 11-1075688-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075688C>G , CM000673.2:g.1075688C>G GRCh38
NC_000011.9:g.1075688C>G , CM000673.1:g.1075688C>G GRCh37
NC_000011.8:g.1065688C>G NCBI36
NG_051929.1:g.5814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.141C>G
ENST00000675028.1:c.114C>G ENSP00000502432.1:p.Ser38Arg
NM_002457.3:c.114C>G NP_002448.3:p.Ser38Arg
NM_002457.4:c.114C>G NP_002448.4:p.Ser38Arg