Canonical Allele Identifier: CA5156420
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2280328
ClinVar RCV Id: RCV002818535
dbSNP Id: rs747781559
ExAC: 9:101983863 G / A
gnomAD v2: 9-101983863-G-A
gnomAD v4: 9-99221581-G-A
MyVariant Identifiers: chr9:g.101983863G>A (hg19) chr9:g.99221581G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221581G>A , CM000671.2:g.99221581G>A GRCh38
NC_000009.11:g.101983863G>A , CM000671.1:g.101983863G>A GRCh37
NC_000009.10:g.101023684G>A NCBI36
NG_008928.1:g.5384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.314C>T MANE Select ENSP00000417764.1:p.Ala105Val
ENST00000238477.5:c.314C>T ENSP00000432675.2:p.Ala105Val
ENST00000476832.1:c.314C>T ENSP00000417764.1:p.Ala105Val
NM_033087.3:c.314C>T NP_149078.1:p.Ala105Val
NR_024532.1:n.384C>T
NM_033087.4:c.314C>T MANE Select NP_149078.1:p.Ala105Val
NR_024532.2:n.362C>T
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