Canonical Allele Identifier: CA5797991
Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs377098809
ExAC: 11:1075718 C / T
gnomAD v2: 11-1075718-C-T
gnomAD v3: 11-1075718-C-T
gnomAD v4: 11-1075718-C-T
MyVariant Identifiers: chr11:g.1075718C>T (hg19) chr11:g.1075718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075718C>T , CM000673.2:g.1075718C>T GRCh38
NC_000011.9:g.1075718C>T , CM000673.1:g.1075718C>T GRCh37
NC_000011.8:g.1065718C>T NCBI36
NG_051929.1:g.5844C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.171C>T
ENST00000675028.1:c.144C>T ENSP00000502432.1:p.Phe48=
NM_002457.3:c.144C>T NP_002448.3:p.Phe48=
NM_002457.4:c.144C>T NP_002448.4:p.Phe48=
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