Canonical Allele Identifier: CA9556309
Gene: FUT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2599580
ClinVar RCV Id: RCV004349452
dbSNP Id: rs141719385
ExAC: 19:49206872 G / A
gnomAD v2: 19-49206872-G-A
gnomAD v3: 19-48703615-G-A
gnomAD v4: 19-48703615-G-A
MyVariant Identifiers: chr19:g.49206872G>A (hg19) chr19:g.48703615G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703615G>A , CM000681.2:g.48703615G>A GRCh38
NC_000019.9:g.49206872G>A , CM000681.1:g.49206872G>A GRCh37
NC_000019.8:g.53898684G>A NCBI36
NG_007511.1:g.12645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.659G>A MANE Select ENSP00000387498.2:p.Arg220Gln
ENST00000522966.2:c.659G>A ENSP00000430227.2:p.Arg220Gln
ENST00000391876.5:c.659G>A ENSP00000375748.4:p.Arg220Gln
ENST00000425340.2:c.659G>A ENSP00000387498.2:p.Arg220Gln
ENST00000522966.1:c.659G>A ENSP00000430227.1:p.Arg220Gln
NM_000511.5:c.659G>A NP_000502.4:p.Arg220Gln
NM_001097638.2:c.659G>A NP_001091107.1:p.Arg220Gln
NR_131188.1:n.234C>T
NM_000511.6:c.659G>A MANE Select NP_000502.4:p.Arg220Gln
NM_001097638.3:c.659G>A NP_001091107.1:p.Arg220Gln
Search 100 bp 5'
Search 100 bp 3'