Canonical Allele Identifier: CA466649038
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983940C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221658C>T , CM000671.2:g.99221658C>T GRCh38
NC_000009.11:g.101983940C>T , CM000671.1:g.101983940C>T GRCh37
NC_000009.10:g.101023761C>T NCBI36
NG_008928.1:g.5307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.237G>A MANE Select ENSP00000417764.1:p.Leu79=
ENST00000238477.5:c.237G>A ENSP00000432675.2:p.Leu79=
ENST00000476832.1:c.237G>A ENSP00000417764.1:p.Leu79=
NM_033087.3:c.237G>A NP_149078.1:p.Leu79=
NR_024532.1:n.307G>A
NM_033087.4:c.237G>A MANE Select NP_149078.1:p.Leu79=
NR_024532.2:n.285G>A