Canonical Allele Identifier: CA216986695
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1085368A>G
gnomAD v3:
11:1085368 A / G
gnomAD v4:
chr11-1085368-A-G
Joint Max Group AF 0.79744616 (NFE)
Genomes Max Group AF 0.7937622 (NFE)
Exomes Max Group AF 0.79736743 (NFE)
dbSNP:
7396030
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1085368A>G , CM000673.2:g.1085368A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.2246+45A>G
ENST00000675028.1:c.2219+45A>G ENSP00000502432.1:n.2219+45A>G
NM_002457.3:c.2219+45A>G NP_002448.3:n.2219+45A>G
NM_002457.4:c.2219+45A>G NP_002448.4:n.2219+45A>G
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