Canonical Allele Identifier: CA374231213
Gene: ALG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221572T>C , CM000671.2:g.99221572T>C GRCh38
NC_000009.11:g.101983854T>C , CM000671.1:g.101983854T>C GRCh37
NC_000009.10:g.101023675T>C NCBI36
NG_008928.1:g.5393A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.323A>G MANE Select ENSP00000417764.1:p.Glu108Gly
ENST00000238477.5:c.323A>G ENSP00000432675.2:p.Glu108Gly
ENST00000476832.1:c.323A>G ENSP00000417764.1:p.Glu108Gly
NM_033087.3:c.323A>G NP_149078.1:p.Glu108Gly
NR_024532.1:n.393A>G
NM_033087.4:c.323A>G MANE Select NP_149078.1:p.Glu108Gly
NR_024532.2:n.371A>G