Canonical Allele Identifier: CA374231497

Gene: ALG2

Linked Data

• gnomAD v4: 9-99221621-C-A
• MyVariant Identifiers: chr9:g.101983903C>A (hg19) ; chr9:g.99221621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221621C>A , CM000671.2:g.99221621C>A	GRCh38
NC_000009.11:g.101983903C>A , CM000671.1:g.101983903C>A	GRCh37
NC_000009.10:g.101023724C>A	NCBI36
NG_008928.1:g.5344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.274G>T MANE Select	ENSP00000417764.1:p.Val92Leu
ENST00000238477.5:c.274G>T	ENSP00000432675.2:p.Val92Leu
ENST00000476832.1:c.274G>T	ENSP00000417764.1:p.Val92Leu
NM_033087.3:c.274G>T	NP_149078.1:p.Val92Leu
NR_024532.1:n.344G>T
NM_033087.4:c.274G>T MANE Select	NP_149078.1:p.Val92Leu
NR_024532.2:n.322G>T