Canonical Allele Identifier: CA5797988

Gene: MUC2

Linked Data

• dbSNP Id: rs539869645
• ExAC: 11:1075701 T / G
• gnomAD v2: 11-1075701-T-G
• gnomAD v3: 11-1075701-T-G
• gnomAD v4: 11-1075701-T-G
• MyVariant Identifiers: chr11:g.1075701T>G (hg19) ; chr11:g.1075701T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1075701T>G , CM000673.2:g.1075701T>G	GRCh38
NC_000011.9:g.1075701T>G , CM000673.1:g.1075701T>G	GRCh37
NC_000011.8:g.1065701T>G	NCBI36
NG_051929.1:g.5827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361558.7:n.154T>G
ENST00000675028.1:c.127T>G	ENSP00000502432.1:p.Phe43Val
NM_002457.3:c.127T>G	NP_002448.3:p.Phe43Val
NM_002457.4:c.127T>G	NP_002448.4:p.Phe43Val