Canonical Allele Identifier: CA374231240
Gene: ALG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221577G>C , CM000671.2:g.99221577G>C GRCh38
NC_000009.11:g.101983859G>C , CM000671.1:g.101983859G>C GRCh37
NC_000009.10:g.101023680G>C NCBI36
NG_008928.1:g.5388C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.318C>G MANE Select ENSP00000417764.1:p.Asp106Glu
ENST00000238477.5:c.318C>G ENSP00000432675.2:p.Asp106Glu
ENST00000476832.1:c.318C>G ENSP00000417764.1:p.Asp106Glu
NM_033087.3:c.318C>G NP_149078.1:p.Asp106Glu
NR_024532.1:n.388C>G
NM_033087.4:c.318C>G MANE Select NP_149078.1:p.Asp106Glu
NR_024532.2:n.366C>G