Canonical Allele Identifier: CA472358913
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs1339328214
gnomAD v2: 11-1075746-C-A
gnomAD v4: 11-1075746-C-A
MyVariant Identifiers: chr11:g.1075746C>A (hg19) chr11:g.1075746C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075746C>A , CM000673.2:g.1075746C>A GRCh38
NC_000011.9:g.1075746C>A , CM000673.1:g.1075746C>A GRCh37
NC_000011.8:g.1065746C>A NCBI36
NG_051929.1:g.5872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.199C>A
ENST00000675028.1:c.172C>A ENSP00000502432.1:p.Pro58Thr
NM_002457.3:c.172C>A NP_002448.3:p.Pro58Thr
NM_002457.4:c.172C>A NP_002448.4:p.Leu58Ile
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