Canonical Allele Identifier: CA9556357

Gene: FUT2

Linked Data

• dbSNP Id: rs750797423
• ExAC: 19:49207045 C / T
• gnomAD v2: 19-49207045-C-T
• gnomAD v4: 19-48703788-C-T
• MyVariant Identifiers: chr19:g.49207045C>T (hg19) ; chr19:g.48703788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48703788C>T , CM000681.2:g.48703788C>T	GRCh38
NC_000019.9:g.49207045C>T , CM000681.1:g.49207045C>T	GRCh37
NC_000019.8:g.53898857C>T	NCBI36
NG_007511.1:g.12818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425340.3:c.832C>T MANE Select	ENSP00000387498.2:p.Leu278Phe
ENST00000522966.2:c.832C>T	ENSP00000430227.2:p.Leu278Phe
ENST00000391876.5:c.832C>T	ENSP00000375748.4:p.Leu278Phe
ENST00000425340.2:c.832C>T	ENSP00000387498.2:p.Leu278Phe
NM_000511.5:c.832C>T	NP_000502.4:p.Leu278Phe
NM_001097638.2:c.832C>T	NP_001091107.1:p.Leu278Phe
NR_131188.1:n.61G>A
NM_000511.6:c.832C>T MANE Select	NP_000502.4:p.Leu278Phe
NM_001097638.3:c.832C>T	NP_001091107.1:p.Leu278Phe