Canonical Allele Identifier: CA374231258
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087827
ClinVar RCV Id: RCV003009759
gnomAD v4: 9-99221579-C-T
MyVariant Identifiers: chr9:g.101983861C>T (hg19) chr9:g.99221579C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221579C>T , CM000671.2:g.99221579C>T GRCh38
NC_000009.11:g.101983861C>T , CM000671.1:g.101983861C>T GRCh37
NC_000009.10:g.101023682C>T NCBI36
NG_008928.1:g.5386G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.316G>A MANE Select ENSP00000417764.1:p.Asp106Asn
ENST00000238477.5:c.316G>A ENSP00000432675.2:p.Asp106Asn
ENST00000476832.1:c.316G>A ENSP00000417764.1:p.Asp106Asn
NM_033087.3:c.316G>A NP_149078.1:p.Asp106Asn
NR_024532.1:n.386G>A
NM_033087.4:c.316G>A MANE Select NP_149078.1:p.Asp106Asn
NR_024532.2:n.364G>A
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