Canonical Allele Identifier: CA472370083
Gene: MUC2 HGNC NCBI
MyVariant.info:
GRCh37 chr11:g.1084362G>C
Revel Score:
ENST00000441003 0.381
ENST00000359061 0.381
gnomAD v4:
chr11-1086366-G-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
dbSNP:
11245936
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000361558.7:n.2521G>C
ENST00000675028.1:c.2494G>C ENSP00000502432.1:p.Gly832Arg
NM_002457.3:c.2494G>C NP_002448.3:p.Gly832Arg
NM_002457.4:c.2494G>C NP_002448.4:p.Gly832Arg
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