Canonical Allele Identifier: CA374231759
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221665-C-A
MyVariant Identifiers: chr9:g.101983947C>A (hg19) chr9:g.99221665C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221665C>A , CM000671.2:g.99221665C>A GRCh38
NC_000009.11:g.101983947C>A , CM000671.1:g.101983947C>A GRCh37
NC_000009.10:g.101023768C>A NCBI36
NG_008928.1:g.5300G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.230G>T MANE Select ENSP00000417764.1:p.Arg77Leu
ENST00000238477.5:c.230G>T ENSP00000432675.2:p.Arg77Leu
ENST00000476832.1:c.230G>T ENSP00000417764.1:p.Arg77Leu
NM_033087.3:c.230G>T NP_149078.1:p.Arg77Leu
NR_024532.1:n.300G>T
NM_033087.4:c.230G>T MANE Select NP_149078.1:p.Arg77Leu
NR_024532.2:n.278G>T
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