Canonical Allele Identifier: CA5799018
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1086366G>A
GRCh37 chr11:g.1084362G>A
Revel Score:
ENST00000441003 0.332
ENST00000359061 0.332
gnomAD v2:
11:1084362 G / A
gnomAD v3:
11:1086366 G / A
gnomAD v4:
chr11-1086366-G-A
Joint Max Group AF 0.09007478 (NFE)
Genomes Max Group AF 0.08784898 (NFE)
Exomes Max Group AF 0.09010963 (NFE)
dbSNP:
11245936
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1086366G>A , CM000673.2:g.1086366G>A GRCh38
NC_000011.9:g.1084362G>A , CM000673.1:g.1084362G>A GRCh37
NC_000011.8:g.1074362G>A NCBI36
NG_051929.1:g.15065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.2521G>A
ENST00000675028.1:c.2494G>A ENSP00000502432.1:p.Gly832Ser
NM_002457.3:c.2494G>A NP_002448.3:p.Gly832Ser
NM_002457.4:c.2494G>A NP_002448.4:p.Gly832Ser
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