Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA216976832

Gene: MUC2 HGNC NCBI

Linked Data

dbSNP Id: rs2856111

gnomAD v3: 11-1075747-C-T

gnomAD v4: 11-1075747-C-T

MyVariant Identifiers: chr11:g.1075747C>T (hg38)

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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