Canonical Allele Identifier: CA374231249
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983860T>C (hg19) chr9:g.99221578T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221578T>C , CM000671.2:g.99221578T>C GRCh38
NC_000009.11:g.101983860T>C , CM000671.1:g.101983860T>C GRCh37
NC_000009.10:g.101023681T>C NCBI36
NG_008928.1:g.5387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.317A>G MANE Select ENSP00000417764.1:p.Asp106Gly
ENST00000238477.5:c.317A>G ENSP00000432675.2:p.Asp106Gly
ENST00000476832.1:c.317A>G ENSP00000417764.1:p.Asp106Gly
NM_033087.3:c.317A>G NP_149078.1:p.Asp106Gly
NR_024532.1:n.387A>G
NM_033087.4:c.317A>G MANE Select NP_149078.1:p.Asp106Gly
NR_024532.2:n.365A>G
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