Canonical Allele Identifier: CA466648905
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173387
ClinVar RCV Id: RCV002598626
dbSNP Id: rs1418025063
gnomAD v2: 9-101983853-C-T
gnomAD v4: 9-99221571-C-T
MyVariant Identifiers: chr9:g.101983853C>T (hg19) chr9:g.99221571C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221571C>T , CM000671.2:g.99221571C>T GRCh38
NC_000009.11:g.101983853C>T , CM000671.1:g.101983853C>T GRCh37
NC_000009.10:g.101023674C>T NCBI36
NG_008928.1:g.5394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.324G>A MANE Select ENSP00000417764.1:p.Glu108=
ENST00000238477.5:c.324G>A ENSP00000432675.2:p.Glu108=
ENST00000476832.1:c.324G>A ENSP00000417764.1:p.Glu108=
NM_033087.3:c.324G>A NP_149078.1:p.Glu108=
NR_024532.1:n.394G>A
NM_033087.4:c.324G>A MANE Select NP_149078.1:p.Glu108=
NR_024532.2:n.372G>A
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