Canonical Allele Identifier: CA374231577
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1301773898
gnomAD v3: 9-99221633-C-G
gnomAD v4: 9-99221633-C-G
MyVariant Identifiers: chr9:g.101983915C>G (hg19) chr9:g.99221633C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221633C>G , CM000671.2:g.99221633C>G GRCh38
NC_000009.11:g.101983915C>G , CM000671.1:g.101983915C>G GRCh37
NC_000009.10:g.101023736C>G NCBI36
NG_008928.1:g.5332G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.262G>C MANE Select ENSP00000417764.1:p.Val88Leu
ENST00000238477.5:c.262G>C ENSP00000432675.2:p.Val88Leu
ENST00000476832.1:c.262G>C ENSP00000417764.1:p.Val88Leu
NM_033087.3:c.262G>C NP_149078.1:p.Val88Leu
NR_024532.1:n.332G>C
NM_033087.4:c.262G>C MANE Select NP_149078.1:p.Val88Leu
NR_024532.2:n.310G>C
Search 100 bp 5'
Search 100 bp 3'