Canonical Allele Identifier: CA9556396
Gene: FUT2 HGNC NCBI

Linked Data

dbSNP Id: rs778117450
ExAC: 19:49207170 C / CT
gnomAD v2: 19-49207170-C-CT
gnomAD v4: 19-48703913-C-CT
MyVariant Identifiers: chr19:g.49207170_49207171insT (hg19) chr19:g.48703913_48703914insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703916dup , CM000681.2:g.48703916dup GRCh38
NC_000019.9:g.49207173dup , CM000681.1:g.49207173dup GRCh37
NC_000019.8:g.53898985dup NCBI36
NG_007511.1:g.12946dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.960dup MANE Select ENSP00000387498.2:p.Lys321Ter
ENST00000522966.2:c.960dup ENSP00000430227.2:p.Lys321Ter
ENST00000391876.5:c.960dup ENSP00000375748.4:p.Lys321Ter
ENST00000425340.2:c.960dup ENSP00000387498.2:p.Lys321Ter
NM_000511.5:c.960dup NP_000502.4:p.Lys321Ter
NM_001097638.2:c.960dup NP_001091107.1:p.Lys321Ter
NM_000511.6:c.960dup MANE Select NP_000502.4:p.Lys321Ter
NM_001097638.3:c.960dup NP_001091107.1:p.Lys321Ter
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