ClinGen Allele Registry
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Canonical Allele Identifier:
CA216976832
Gene: MUC2
HGNC
NCBI
JSON-LD
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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