Canonical Allele Identifier: CA9556215
Gene: FUT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 996598
ClinVar RCV Id: RCV001291124
dbSNP Id: rs200157007
ExAC: 19:49206548 C / T
gnomAD v2: 19-49206548-C-T
gnomAD v3: 19-48703291-C-T
gnomAD v4: 19-48703291-C-T
MyVariant Identifiers: chr19:g.49206548C>T (hg19) chr19:g.48703291C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703291C>T , CM000681.2:g.48703291C>T GRCh38
NC_000019.9:g.49206548C>T , CM000681.1:g.49206548C>T GRCh37
NC_000019.8:g.53898360C>T NCBI36
NG_007511.1:g.12321C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000425340.3:c.335C>T MANE Select ENSP00000387498.2:p.Pro112Leu
ENST00000522966.2:c.335C>T ENSP00000430227.2:p.Pro112Leu
ENST00000391876.5:c.335C>T ENSP00000375748.4:p.Pro112Leu
ENST00000425340.2:c.335C>T ENSP00000387498.2:p.Pro112Leu
ENST00000522966.1:c.335C>T ENSP00000430227.1:p.Pro112Leu
NM_000511.5:c.335C>T NP_000502.4:p.Pro112Leu
NM_001097638.2:c.335C>T NP_001091107.1:p.Pro112Leu
NR_131188.1:n.558G>A
NM_000511.6:c.335C>T MANE Select NP_000502.4:p.Pro112Leu
NM_001097638.3:c.335C>T NP_001091107.1:p.Pro112Leu
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