Canonical Allele Identifier: CA9556383

Gene: FUT2

Linked Data

• dbSNP Id: rs755120727
• ExAC: 19:49207117 GAC / G
• gnomAD v2: 19-49207117-GAC-G
• gnomAD v4: 19-48703860-GAC-G
• MyVariant Identifiers: chr19:g.49207118_49207119del (hg19) ; chr19:g.48703861_48703862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48703863_48703864del , CM000681.2:g.48703863_48703864del	GRCh38
NC_000019.9:g.49207120_49207121del , CM000681.1:g.49207120_49207121del	GRCh37
NC_000019.8:g.53898932_53898933del	NCBI36
NG_007511.1:g.12893_12894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425340.3:c.907_908del MANE Select	ENSP00000387498.2:p.Thr303HisfsTer18
ENST00000522966.2:c.907_908del	ENSP00000430227.2:p.Thr303HisfsTer18
ENST00000391876.5:c.907_908del	ENSP00000375748.4:p.Thr303HisfsTer18
ENST00000425340.2:c.907_908del	ENSP00000387498.2:p.Thr303HisfsTer18
NM_000511.5:c.907_908del	NP_000502.4:p.Thr303HisfsTer18
NM_001097638.2:c.907_908del	NP_001091107.1:p.Thr303HisfsTer18
NM_000511.6:c.907_908del MANE Select	NP_000502.4:p.Thr303HisfsTer18
NM_001097638.3:c.907_908del	NP_001091107.1:p.Thr303HisfsTer18