Canonical Allele Identifier: CA374231462
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221614-A-G
MyVariant Identifiers: chr9:g.101983896A>G (hg19) chr9:g.99221614A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221614A>G , CM000671.2:g.99221614A>G GRCh38
NC_000009.11:g.101983896A>G , CM000671.1:g.101983896A>G GRCh37
NC_000009.10:g.101023717A>G NCBI36
NG_008928.1:g.5351T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.281T>C MANE Select ENSP00000417764.1:p.Met94Thr
ENST00000238477.5:c.281T>C ENSP00000432675.2:p.Met94Thr
ENST00000476832.1:c.281T>C ENSP00000417764.1:p.Met94Thr
NM_033087.3:c.281T>C NP_149078.1:p.Met94Thr
NR_024532.1:n.351T>C
NM_033087.4:c.281T>C MANE Select NP_149078.1:p.Met94Thr
NR_024532.2:n.329T>C
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