Canonical Allele Identifier: CA9556391
Gene: FUT2 HGNC NCBI

Linked Data

dbSNP Id: rs758980209
ExAC: 19:49207141 AC / A
gnomAD v2: 19-49207141-AC-A
gnomAD v3: 19-48703884-AC-A
gnomAD v4: 19-48703884-AC-A
MyVariant Identifiers: chr19:g.49207142del (hg19) chr19:g.48703885del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703887del , CM000681.2:g.48703887del GRCh38
NC_000019.9:g.49207144del , CM000681.1:g.49207144del GRCh37
NC_000019.8:g.53898956del NCBI36
NG_007511.1:g.12917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.931del MANE Select ENSP00000387498.2:p.Leu311SerfsTer?
ENST00000522966.2:c.931del ENSP00000430227.2:p.Leu311SerfsTer?
ENST00000391876.5:c.931del ENSP00000375748.4:p.Leu311SerfsTer?
ENST00000425340.2:c.931del ENSP00000387498.2:p.Leu311SerfsTer?
NM_000511.5:c.931del NP_000502.4:p.Leu311SerfsTer?
NM_001097638.2:c.931del NP_001091107.1:p.Leu311SerfsTer?
NM_000511.6:c.931del MANE Select NP_000502.4:p.Leu311SerfsTer?
NM_001097638.3:c.931del NP_001091107.1:p.Leu311SerfsTer?
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