Canonical Allele Identifier: CA374231359
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983878T>G (hg19) chr9:g.99221596T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221596T>G , CM000671.2:g.99221596T>G GRCh38
NC_000009.11:g.101983878T>G , CM000671.1:g.101983878T>G GRCh37
NC_000009.10:g.101023699T>G NCBI36
NG_008928.1:g.5369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.299A>C MANE Select ENSP00000417764.1:p.Tyr100Ser
ENST00000238477.5:c.299A>C ENSP00000432675.2:p.Tyr100Ser
ENST00000476832.1:c.299A>C ENSP00000417764.1:p.Tyr100Ser
NM_033087.3:c.299A>C NP_149078.1:p.Tyr100Ser
NR_024532.1:n.369A>C
NM_033087.4:c.299A>C MANE Select NP_149078.1:p.Tyr100Ser
NR_024532.2:n.347A>C
Search 100 bp 5'
Search 100 bp 3'