Canonical Allele Identifier: CA1867298055
Gene: ALG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221585G= , CM000671.2:g.99221585G= GRCh38
NC_000009.11:g.101983867G= , CM000671.1:g.101983867G= GRCh37
NC_000009.10:g.101023688G= NCBI36
NG_008928.1:g.5380C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.310C= MANE Select ENSP00000417764.1:p.Leu104=
ENST00000238477.5:c.310C= ENSP00000432675.2:p.Leu104=
ENST00000476832.1:c.310C= ENSP00000417764.1:p.Leu104=
NM_033087.3:c.310C= NP_149078.1:p.Leu104=
NR_024532.1:n.380C=
NM_033087.4:c.310C= MANE Select NP_149078.1:p.Leu104=
NR_024532.2:n.358C=