Canonical Allele Identifier: CA374231272
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983866A>C (hg19) chr9:g.99221584A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221584A>C , CM000671.2:g.99221584A>C GRCh38
NC_000009.11:g.101983866A>C , CM000671.1:g.101983866A>C GRCh37
NC_000009.10:g.101023687A>C NCBI36
NG_008928.1:g.5381T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.311T>G MANE Select ENSP00000417764.1:p.Leu104Arg
ENST00000238477.5:c.311T>G ENSP00000432675.2:p.Leu104Arg
ENST00000476832.1:c.311T>G ENSP00000417764.1:p.Leu104Arg
NM_033087.3:c.311T>G NP_149078.1:p.Leu104Arg
NR_024532.1:n.381T>G
NM_033087.4:c.311T>G MANE Select NP_149078.1:p.Leu104Arg
NR_024532.2:n.359T>G
Search 100 bp 5'
Search 100 bp 3'