Canonical Allele Identifier: CA196856004
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 657644
ClinVar RCV Id: RCV000814293 RCV002252247 RCV004028813
dbSNP Id: rs1054683823
gnomAD v2: 9-101983945-C-G
gnomAD v3: 9-99221663-C-G
gnomAD v4: 9-99221663-C-G
MyVariant Identifiers: chr9:g.101983945C>G (hg19) chr9:g.99221663C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221663C>G , CM000671.2:g.99221663C>G GRCh38
NC_000009.11:g.101983945C>G , CM000671.1:g.101983945C>G GRCh37
NC_000009.10:g.101023766C>G NCBI36
NG_008928.1:g.5302G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.232G>C MANE Select ENSP00000417764.1:p.Gly78Arg
ENST00000238477.5:c.232G>C ENSP00000432675.2:p.Gly78Arg
ENST00000476832.1:c.232G>C ENSP00000417764.1:p.Gly78Arg
NM_033087.3:c.232G>C NP_149078.1:p.Gly78Arg
NR_024532.1:n.302G>C
NM_033087.4:c.232G>C MANE Select NP_149078.1:p.Gly78Arg
NR_024532.2:n.280G>C
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