Canonical Allele Identifier: CA5156309
Community Standard Title: NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
Gene: ALG2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99218710T>C , CM000671.2:g.99218710T>C GRCh38
NC_000009.11:g.101980992T>C , CM000671.1:g.101980992T>C GRCh37
NC_000009.10:g.101020813T>C NCBI36
NG_008928.1:g.8255A>G

Transcript Alleles

HGVS Amino-acid Change
NM_033087.4:c.475A>G MANE Select NP_149078.1:p.Ile159Val
ENST00000476832.2:c.475A>G MANE Select ENSP00000417764.1:p.Ile159Val
NM_033087.3:c.475A>G NP_149078.1:p.Ile159Val
NR_024532.1:n.704A>G
NR_024532.2:n.682A>G
ENST00000238477.5:c.*217A>G ENSP00000432675.2:n.*217A>G
ENST00000319033.7:c.196A>G ENSP00000326609.6:p.Ile66Val
ENST00000476832.1:c.475A>G ENSP00000417764.1:p.Ile159Val
Search 100 bp 5'
Search 100 bp 3'