Canonical Allele Identifier: CA374231355
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1372670324
gnomAD v3: 9-99221596-T-A
gnomAD v4: 9-99221596-T-A
MyVariant Identifiers: chr9:g.101983878T>A (hg19) chr9:g.99221596T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221596T>A , CM000671.2:g.99221596T>A GRCh38
NC_000009.11:g.101983878T>A , CM000671.1:g.101983878T>A GRCh37
NC_000009.10:g.101023699T>A NCBI36
NG_008928.1:g.5369A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.299A>T MANE Select ENSP00000417764.1:p.Tyr100Phe
ENST00000238477.5:c.299A>T ENSP00000432675.2:p.Tyr100Phe
ENST00000476832.1:c.299A>T ENSP00000417764.1:p.Tyr100Phe
NM_033087.3:c.299A>T NP_149078.1:p.Tyr100Phe
NR_024532.1:n.369A>T
NM_033087.4:c.299A>T MANE Select NP_149078.1:p.Tyr100Phe
NR_024532.2:n.347A>T
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