Canonical Allele Identifier: CA5156309

Gene: ALG2

Linked Data

• ClinVar Variation Id: 390397
• ClinVar RCV Id: RCV000766035 ; RCV001572637 ; RCV002252128 ; RCV003912763
• dbSNP Id: rs146770430
• ExAC: 9:101980992 T / C
• gnomAD v2: 9-101980992-T-C
• gnomAD v3: 9-99218710-T-C
• gnomAD v4: 9-99218710-T-C
• MyVariant Identifiers: chr9:g.101980992T>C (hg19) ; chr9:g.99218710T>C (hg38)

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