Canonical Allele Identifier: CA1867298285
Gene: ALG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221660G= , CM000671.2:g.99221660G= GRCh38
NC_000009.11:g.101983942G= , CM000671.1:g.101983942G= GRCh37
NC_000009.10:g.101023763G= NCBI36
NG_008928.1:g.5305C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.235C= MANE Select ENSP00000417764.1:p.Leu79=
ENST00000238477.5:c.235C= ENSP00000432675.2:p.Leu79=
ENST00000476832.1:c.235C= ENSP00000417764.1:p.Leu79=
NM_033087.3:c.235C= NP_149078.1:p.Leu79=
NR_024532.1:n.305C=
NM_033087.4:c.235C= MANE Select NP_149078.1:p.Leu79=
NR_024532.2:n.283C=