Canonical Allele Identifier: CA196855970
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519245
ClinVar RCV Id: RCV002024465
dbSNP Id: rs1015050313
gnomAD v3: 9-99221631-G-C
gnomAD v4: 9-99221631-G-C
MyVariant Identifiers: chr9:g.101983913G>C (hg19) chr9:g.99221631G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221631G>C , CM000671.2:g.99221631G>C GRCh38
NC_000009.11:g.101983913G>C , CM000671.1:g.101983913G>C GRCh37
NC_000009.10:g.101023734G>C NCBI36
NG_008928.1:g.5334C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.264C>G MANE Select ENSP00000417764.1:p.Val88=
ENST00000238477.5:c.264C>G ENSP00000432675.2:p.Val88=
ENST00000476832.1:c.264C>G ENSP00000417764.1:p.Val88=
NM_033087.3:c.264C>G NP_149078.1:p.Val88=
NR_024532.1:n.334C>G
NM_033087.4:c.264C>G MANE Select NP_149078.1:p.Val88=
NR_024532.2:n.312C>G
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