Canonical Allele Identifier: CA5801201
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1107170A>G
GRCh37 chr11:g.1101078A>G
Revel Score:
ENST00000441003 0.010
gnomAD v2:
11:1101078 A / G
gnomAD v3:
11:1107170 A / G
gnomAD v4:
chr11-1107170-A-G
Joint Max Group AF 0.1378469 (AFR)
Genomes Max Group AF 0.13172949 (AFR)
Exomes Max Group AF 0.14337682 (AFR)
dbSNP:
11245954
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1107170A>G , CM000673.2:g.1107170A>G GRCh38
NC_000011.9:g.1101078A>G , CM000673.1:g.1101078A>G GRCh37
NC_000011.8:g.1091078A>G NCBI36
NG_051929.1:g.39193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.11534A>G
ENST00000674892.1:c.1981A>G ENSP00000501871.1:p.Ser661Gly
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