Canonical Allele Identifier: CA466649039
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221658-C-G
MyVariant Identifiers: chr9:g.101983940C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221658C>G , CM000671.2:g.99221658C>G GRCh38
NC_000009.11:g.101983940C>G , CM000671.1:g.101983940C>G GRCh37
NC_000009.10:g.101023761C>G NCBI36
NG_008928.1:g.5307G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.237G>C MANE Select ENSP00000417764.1:p.Leu79=
ENST00000238477.5:c.237G>C ENSP00000432675.2:p.Leu79=
ENST00000476832.1:c.237G>C ENSP00000417764.1:p.Leu79=
NM_033087.3:c.237G>C NP_149078.1:p.Leu79=
NR_024532.1:n.307G>C
NM_033087.4:c.237G>C MANE Select NP_149078.1:p.Leu79=
NR_024532.2:n.285G>C
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