ClinGen Allele Registry
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Canonical Allele Identifier:
CA216992699
Gene: MUC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs10902088
gnomAD v3:
11-1090036-T-C
gnomAD v4:
11-1090036-T-C
MyVariant Identifiers:
chr11:g.1090036T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1090036T>C , CM000673.2:g.1090036T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361558.7:n.3474T>C
ENST00000675028.1:c.3447T>C
ENSP00000502432.1:p.Asn1149=
NM_002457.3:c.3447T>C
NP_002448.3:p.Asn1149=
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