Canonical Allele Identifier: CA122797
Gene: FUT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12945
ClinVar RCV Id: RCV000013808 RCV000013810 RCV001291126
dbSNP Id: rs601338
ExAC: 19:49206674 G / A
gnomAD v2: 19-49206674-G-A
gnomAD v3: 19-48703417-G-A
gnomAD v4: 19-48703417-G-A
MyVariant Identifiers: chr19:g.49206674G>A (hg19) chr19:g.48703417G>A (hg38)
PubMed: PMID:7876234 PMID:7876235 PMID:12692541 PMID:18776911 PMID:20570966
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703417G>A , CM000681.2:g.48703417G>A GRCh38
NC_000019.9:g.49206674G>A , CM000681.1:g.49206674G>A GRCh37
NC_000019.8:g.53898486G>A NCBI36
NG_007511.1:g.12447G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000425340.3:c.461G>A MANE Select ENSP00000387498.2:p.Trp154Ter
ENST00000522966.2:c.461G>A ENSP00000430227.2:p.Trp154Ter
ENST00000391876.5:c.461G>A ENSP00000375748.4:p.Trp154Ter
ENST00000425340.2:c.461G>A ENSP00000387498.2:p.Trp154Ter
ENST00000522966.1:c.461G>A ENSP00000430227.1:p.Trp154Ter
NM_000511.5:c.461G>A NP_000502.4:p.Trp154Ter
NM_001097638.2:c.461G>A NP_001091107.1:p.Trp154Ter
NR_131188.1:n.432C>T
NM_000511.6:c.461G>A MANE Select NP_000502.4:p.Trp154Ter
NM_001097638.3:c.461G>A NP_001091107.1:p.Trp154Ter
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