Canonical Allele Identifier: CA374231500
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1828804049
MyVariant Identifiers: chr9:g.101983903C>G (hg19) chr9:g.99221621C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221621C>G , CM000671.2:g.99221621C>G GRCh38
NC_000009.11:g.101983903C>G , CM000671.1:g.101983903C>G GRCh37
NC_000009.10:g.101023724C>G NCBI36
NG_008928.1:g.5344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.274G>C MANE Select ENSP00000417764.1:p.Val92Leu
ENST00000238477.5:c.274G>C ENSP00000432675.2:p.Val92Leu
ENST00000476832.1:c.274G>C ENSP00000417764.1:p.Val92Leu
NM_033087.3:c.274G>C NP_149078.1:p.Val92Leu
NR_024532.1:n.344G>C
NM_033087.4:c.274G>C MANE Select NP_149078.1:p.Val92Leu
NR_024532.2:n.322G>C
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