Canonical Allele Identifier: CA5156435

Gene: ALG2

Linked Data

• ClinVar Variation Id: 862483
• ClinVar RCV Id: RCV001069213
• dbSNP Id: rs752081241
• ExAC: 9:101983938 C / T
• gnomAD v2: 9-101983938-C-T
• gnomAD v3: 9-99221656-C-T
• gnomAD v4: 9-99221656-C-T
• MyVariant Identifiers: chr9:g.101983938C>T (hg19) ; chr9:g.99221656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221656C>T , CM000671.2:g.99221656C>T	GRCh38
NC_000009.11:g.101983938C>T , CM000671.1:g.101983938C>T	GRCh37
NC_000009.10:g.101023759C>T	NCBI36
NG_008928.1:g.5309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.239G>A MANE Select	ENSP00000417764.1:p.Gly80Asp
ENST00000238477.5:c.239G>A	ENSP00000432675.2:p.Gly80Asp
ENST00000476832.1:c.239G>A	ENSP00000417764.1:p.Gly80Asp
NM_033087.3:c.239G>A	NP_149078.1:p.Gly80Asp
NR_024532.1:n.309G>A
NM_033087.4:c.239G>A MANE Select	NP_149078.1:p.Gly80Asp
NR_024532.2:n.287G>A