Canonical Allele Identifier: CA374231668
Gene: ALG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221650C>A , CM000671.2:g.99221650C>A GRCh38
NC_000009.11:g.101983932C>A , CM000671.1:g.101983932C>A GRCh37
NC_000009.10:g.101023753C>A NCBI36
NG_008928.1:g.5315G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.245G>T MANE Select ENSP00000417764.1:p.Gly82Val
ENST00000238477.5:c.245G>T ENSP00000432675.2:p.Gly82Val
ENST00000476832.1:c.245G>T ENSP00000417764.1:p.Gly82Val
NM_033087.3:c.245G>T NP_149078.1:p.Gly82Val
NR_024532.1:n.315G>T
NM_033087.4:c.245G>T MANE Select NP_149078.1:p.Gly82Val
NR_024532.2:n.293G>T