Canonical Allele Identifier: CA374231716
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 568332
ClinVar RCV Id: RCV000688657
dbSNP Id: rs1564222174
gnomAD v4: 9-99221659-A-G
MyVariant Identifiers: chr9:g.101983941A>G (hg19) chr9:g.99221659A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221659A>G , CM000671.2:g.99221659A>G GRCh38
NC_000009.11:g.101983941A>G , CM000671.1:g.101983941A>G GRCh37
NC_000009.10:g.101023762A>G NCBI36
NG_008928.1:g.5306T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.236T>C MANE Select ENSP00000417764.1:p.Leu79Pro
ENST00000238477.5:c.236T>C ENSP00000432675.2:p.Leu79Pro
ENST00000476832.1:c.236T>C ENSP00000417764.1:p.Leu79Pro
NM_033087.3:c.236T>C NP_149078.1:p.Leu79Pro
NR_024532.1:n.306T>C
NM_033087.4:c.236T>C MANE Select NP_149078.1:p.Leu79Pro
NR_024532.2:n.284T>C
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