Canonical Allele Identifier: CA9556353

Gene: FUT2

Linked Data

• dbSNP Id: rs760366985
• ExAC: 19:49207021 TCA / T
• gnomAD v2: 19-49207021-TCA-T
• gnomAD v4: 19-48703764-TCA-T
• MyVariant Identifiers: chr19:g.49207022_49207023del (hg19) ; chr19:g.48703765_48703766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48703766_48703767del , CM000681.2:g.48703766_48703767del	GRCh38
NC_000019.9:g.49207023_49207024del , CM000681.1:g.49207023_49207024del	GRCh37
NC_000019.8:g.53898835_53898836del	NCBI36
NG_007511.1:g.12796_12797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425340.3:c.810_811del MANE Select	ENSP00000387498.2:p.Pro271CysfsTer11
ENST00000522966.2:c.810_811del	ENSP00000430227.2:p.Pro271CysfsTer11
ENST00000391876.5:c.810_811del	ENSP00000375748.4:p.Pro271CysfsTer11
ENST00000425340.2:c.810_811del	ENSP00000387498.2:p.Pro271CysfsTer11
NM_000511.5:c.810_811del	NP_000502.4:p.Pro271CysfsTer11
NM_001097638.2:c.810_811del	NP_001091107.1:p.Pro271CysfsTer11
NR_131188.1:n.83_84del
NM_000511.6:c.810_811del MANE Select	NP_000502.4:p.Pro271CysfsTer11
NM_001097638.3:c.810_811del	NP_001091107.1:p.Pro271CysfsTer11