Canonical Allele Identifier: CA15941945
Gene: FUT2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48705753T>C
GRCh37 chr19:g.49209010T>C
gnomAD v2:
19:49209010 T / C
gnomAD v3:
19:48705753 T / C
gnomAD v4:
chr19-48705753-T-C
Joint Max Group AF 0.53796653 (AFR)
Genomes Max Group AF 0.5379942 (AFR)
Exomes Max Group AF 0.42392204 (NFE)
dbSNP:
503279
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48705753T>C , CM000681.2:g.48705753T>C GRCh38
NC_000019.9:g.49209010T>C , CM000681.1:g.49209010T>C GRCh37
NC_000019.8:g.53900822T>C NCBI36
NG_007511.1:g.14783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.*1765T>C MANE Select ENSP00000387498.2:n.*1765T>C
ENST00000425340.2:c.*1765T>C ENSP00000387498.2:n.*1765T>C
NM_000511.5:c.*1765T>C NP_000502.4:n.*1765T>C
NM_001097638.2:c.*1765T>C NP_001091107.1:n.*1765T>C
NM_000511.6:c.*1765T>C MANE Select NP_000502.4:n.*1765T>C
NM_001097638.3:c.*1765T>C NP_001091107.1:n.*1765T>C
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