Canonical Allele Identifier: CA466649056

Gene: ALG2

Linked Data

• gnomAD v4: 9-99221670-C-A
• MyVariant Identifiers: chr9:g.101983952C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221670C>A , CM000671.2:g.99221670C>A	GRCh38
NC_000009.11:g.101983952C>A , CM000671.1:g.101983952C>A	GRCh37
NC_000009.10:g.101023773C>A	NCBI36
NG_008928.1:g.5295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.225G>T MANE Select	ENSP00000417764.1:p.Leu75=
ENST00000238477.5:c.225G>T	ENSP00000432675.2:p.Leu75=
ENST00000476832.1:c.225G>T	ENSP00000417764.1:p.Leu75=
NM_033087.3:c.225G>T	NP_149078.1:p.Leu75=
NR_024532.1:n.295G>T
NM_033087.4:c.225G>T MANE Select	NP_149078.1:p.Leu75=
NR_024532.2:n.273G>T