Canonical Allele Identifier: CA374231301
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1172846901
gnomAD v2: 9-101983869-A-C
gnomAD v3: 9-99221587-A-C
gnomAD v4: 9-99221587-A-C
MyVariant Identifiers: chr9:g.101983869A>C (hg19) chr9:g.99221587A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221587A>C , CM000671.2:g.99221587A>C GRCh38
NC_000009.11:g.101983869A>C , CM000671.1:g.101983869A>C GRCh37
NC_000009.10:g.101023690A>C NCBI36
NG_008928.1:g.5378T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.308T>G MANE Select ENSP00000417764.1:p.Phe103Cys
ENST00000238477.5:c.308T>G ENSP00000432675.2:p.Phe103Cys
ENST00000476832.1:c.308T>G ENSP00000417764.1:p.Phe103Cys
NM_033087.3:c.308T>G NP_149078.1:p.Phe103Cys
NR_024532.1:n.378T>G
NM_033087.4:c.308T>G MANE Select NP_149078.1:p.Phe103Cys
NR_024532.2:n.356T>G
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