Canonical Allele Identifier: CA216976832
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1075747C>T
gnomAD v3:
11:1075747 C / T
gnomAD v4:
chr11-1075747-C-T
Joint Max Group AF 0.87763689 (AMR)
Genomes Max Group AF 0.86717375 (NFE)
Exomes Max Group AF 0.88356375 (AMR)
dbSNP:
2856111
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1075747C>T , CM000673.2:g.1075747C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.200C>T
ENST00000675028.1:c.173C>T ENSP00000502432.1:p.Pro58Leu
NM_002457.3:c.173C>T NP_002448.3:p.Pro58Leu
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