Canonical Allele Identifier: CA9556354
Gene: FUT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 729703
ClinVar RCV Id: RCV000904388
dbSNP Id: rs1799761
ExAC: 19:49207023 AC / A
gnomAD v2: 19-49207023-AC-A
gnomAD v3: 19-48703766-AC-A
gnomAD v4: 19-48703766-AC-A
MyVariant Identifiers: chr19:g.49207024del (hg19) chr19:g.48703768del (hg38) chr19:g.48703767del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703768del , CM000681.2:g.48703768del GRCh38
NC_000019.9:g.49207025del , CM000681.1:g.49207025del GRCh37
NC_000019.8:g.53898837del NCBI36
NG_007511.1:g.12798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.812del MANE Select ENSP00000387498.2:p.Pro271LeufsTer16
ENST00000522966.2:c.812del ENSP00000430227.2:p.Pro271LeufsTer16
ENST00000391876.5:c.812del ENSP00000375748.4:p.Pro271LeufsTer16
ENST00000425340.2:c.812del ENSP00000387498.2:p.Pro271LeufsTer16
NM_000511.5:c.812del NP_000502.4:p.Pro271LeufsTer16
NM_001097638.2:c.812del NP_001091107.1:p.Pro271LeufsTer16
NR_131188.1:n.82del
NM_000511.6:c.812del MANE Select NP_000502.4:p.Pro271LeufsTer16
NM_001097638.3:c.812del NP_001091107.1:p.Pro271LeufsTer16
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