Canonical Allele Identifier: CA9556359

Gene: FUT2

Linked Data

• dbSNP Id: rs780486054
• ExAC: 19:49207059 C / A
• gnomAD v2: 19-49207059-C-A
• MyVariant Identifiers: chr19:g.49207059C>A (hg19) ; chr19:g.48703802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48703802C>A , CM000681.2:g.48703802C>A	GRCh38
NC_000019.9:g.49207059C>A , CM000681.1:g.49207059C>A	GRCh37
NC_000019.8:g.53898871C>A	NCBI36
NG_007511.1:g.12832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425340.3:c.846C>A MANE Select	ENSP00000387498.2:p.Asn282Lys
ENST00000522966.2:c.846C>A	ENSP00000430227.2:p.Asn282Lys
ENST00000391876.5:c.846C>A	ENSP00000375748.4:p.Asn282Lys
ENST00000425340.2:c.846C>A	ENSP00000387498.2:p.Asn282Lys
NM_000511.5:c.846C>A	NP_000502.4:p.Asn282Lys
NM_001097638.2:c.846C>A	NP_001091107.1:p.Asn282Lys
NR_131188.1:n.47G>T
NM_000511.6:c.846C>A MANE Select	NP_000502.4:p.Asn282Lys
NM_001097638.3:c.846C>A	NP_001091107.1:p.Asn282Lys