Canonical Allele Identifier: CA374231447
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983894C>G (hg19) chr9:g.99221612C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221612C>G , CM000671.2:g.99221612C>G GRCh38
NC_000009.11:g.101983894C>G , CM000671.1:g.101983894C>G GRCh37
NC_000009.10:g.101023715C>G NCBI36
NG_008928.1:g.5353G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.283G>C MANE Select ENSP00000417764.1:p.Val95Leu
ENST00000238477.5:c.283G>C ENSP00000432675.2:p.Val95Leu
ENST00000476832.1:c.283G>C ENSP00000417764.1:p.Val95Leu
NM_033087.3:c.283G>C NP_149078.1:p.Val95Leu
NR_024532.1:n.353G>C
NM_033087.4:c.283G>C MANE Select NP_149078.1:p.Val95Leu
NR_024532.2:n.331G>C
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