Canonical Allele Identifier: CA374231704
Gene: ALG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221657C>A , CM000671.2:g.99221657C>A GRCh38
NC_000009.11:g.101983939C>A , CM000671.1:g.101983939C>A GRCh37
NC_000009.10:g.101023760C>A NCBI36
NG_008928.1:g.5308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.238G>T MANE Select ENSP00000417764.1:p.Gly80Cys
ENST00000238477.5:c.238G>T ENSP00000432675.2:p.Gly80Cys
ENST00000476832.1:c.238G>T ENSP00000417764.1:p.Gly80Cys
NM_033087.3:c.238G>T NP_149078.1:p.Gly80Cys
NR_024532.1:n.308G>T
NM_033087.4:c.238G>T MANE Select NP_149078.1:p.Gly80Cys
NR_024532.2:n.286G>T