Canonical Allele Identifier: CA472358594
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs1857872082
gnomAD v3: 11-1075713-A-G
gnomAD v4: 11-1075713-A-G
MyVariant Identifiers: chr11:g.1075713A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075713A>G , CM000673.2:g.1075713A>G GRCh38
NC_000011.9:g.1075713A>G , CM000673.1:g.1075713A>G GRCh37
NC_000011.8:g.1065713A>G NCBI36
NG_051929.1:g.5839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.166A>G
ENST00000675028.1:c.139A>G ENSP00000502432.1:p.Thr47Ala
NM_002457.3:c.139A>G NP_002448.3:p.Thr47Ala
NM_002457.4:c.139A>G NP_002448.4:p.Thr47Ala