Canonical Allele Identifier: CA5156309
Gene: ALG2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.99218710T>C
GRCh37 chr9:g.101980992T>C
Revel Score:
ENST00000476832 (MANE Select) 0.111
ENST00000319033 0.111
gnomAD v2:
9:101980992 T / C
gnomAD v3:
9:99218710 T / C
gnomAD v4:
chr9-99218710-T-C
Joint Max Group AF 0.00330093 (EAS)
Genomes Max Group AF 0.00030411 (NFE)
Exomes Max Group AF 0.00363822 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99218710T>C , CM000671.2:g.99218710T>C GRCh38
NC_000009.11:g.101980992T>C , CM000671.1:g.101980992T>C GRCh37
NC_000009.10:g.101020813T>C NCBI36
NG_008928.1:g.8255A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.475A>G MANE Select ENSP00000417764.1:p.Ile159Val
ENST00000238477.5:c.*217A>G ENSP00000432675.2:n.*217A>G
ENST00000319033.7:c.196A>G ENSP00000326609.6:p.Ile66Val
ENST00000476832.1:c.475A>G ENSP00000417764.1:p.Ile159Val
NM_033087.3:c.475A>G NP_149078.1:p.Ile159Val
NR_024532.1:n.704A>G
NM_033087.4:c.475A>G MANE Select NP_149078.1:p.Ile159Val
NR_024532.2:n.682A>G
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