Canonical Allele Identifier: CA14645638
Gene: FUT2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48705608G>A
GRCh37 chr19:g.49208865G>A
gnomAD v2:
19:49208865 G / A
gnomAD v3:
19:48705608 G / A
gnomAD v4:
chr19-48705608-G-A
Joint Max Group AF 0.53770471 (AFR)
Genomes Max Group AF 0.53773513 (AFR)
Exomes Max Group AF 0.40512638 (NFE)
dbSNP:
504963
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48705608G>A , CM000681.2:g.48705608G>A GRCh38
NC_000019.9:g.49208865G>A , CM000681.1:g.49208865G>A GRCh37
NC_000019.8:g.53900677G>A NCBI36
NG_007511.1:g.14638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.*1620G>A MANE Select ENSP00000387498.2:n.*1620G>A
ENST00000391876.5:c.*512G>A ENSP00000375748.4:n.*512G>A
ENST00000425340.2:c.*1620G>A ENSP00000387498.2:n.*1620G>A
NM_000511.5:c.*1620G>A NP_000502.4:n.*1620G>A
NM_001097638.2:c.*1620G>A NP_001091107.1:n.*1620G>A
NM_000511.6:c.*1620G>A MANE Select NP_000502.4:n.*1620G>A
NM_001097638.3:c.*1620G>A NP_001091107.1:n.*1620G>A
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