ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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)
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
Search 100 bp 5'
Search 100 bp 3'