Canonical Allele Identifier: CA9556102
Gene: FUT2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48702915C>T
GRCh37 chr19:g.49206172C>T
gnomAD v2:
19:49206172 C / T
gnomAD v3:
19:48702915 C / T
gnomAD v4:
chr19-48702915-C-T
Joint Max Group AF 0.50143333 (MID)
Genomes Max Group AF 0.49152163 (AFR)
Exomes Max Group AF 0.49897538 (MID)
dbSNP:
516246
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48702915C>T , CM000681.2:g.48702915C>T GRCh38
NC_000019.9:g.49206172C>T , CM000681.1:g.49206172C>T GRCh37
NC_000019.8:g.53897984C>T NCBI36
NG_007511.1:g.11945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.-2-40C>T MANE Select ENSP00000387498.2:n.-2-40C>T
ENST00000522966.2:c.-2-40C>T ENSP00000430227.2:n.-2-40C>T
ENST00000391876.5:c.-2-40C>T ENSP00000375748.4:n.-2-40C>T
ENST00000425340.2:c.-2-40C>T ENSP00000387498.2:n.-2-40C>T
ENST00000522966.1:c.-2-40C>T ENSP00000430227.1:n.-2-40C>T
NM_000511.5:c.-2-40C>T NP_000502.4:n.-2-40C>T
NM_001097638.2:c.-2-40C>T NP_001091107.1:n.-2-40C>T
NR_131188.1:n.934G>A
NM_000511.6:c.-2-40C>T MANE Select NP_000502.4:n.-2-40C>T
NM_001097638.3:c.-2-40C>T NP_001091107.1:n.-2-40C>T
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