Canonical Allele Identifier: CA466648963
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951515
ClinVar RCV Id: RCV003805217
dbSNP Id: rs1389785893
gnomAD v2: 9-101983880-G-C
gnomAD v4: 9-99221598-G-C
MyVariant Identifiers: chr9:g.101983880G>C (hg19) chr9:g.99221598G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221598G>C , CM000671.2:g.99221598G>C GRCh38
NC_000009.11:g.101983880G>C , CM000671.1:g.101983880G>C GRCh37
NC_000009.10:g.101023701G>C NCBI36
NG_008928.1:g.5367C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.297C>G MANE Select ENSP00000417764.1:p.Leu99=
ENST00000238477.5:c.297C>G ENSP00000432675.2:p.Leu99=
ENST00000476832.1:c.297C>G ENSP00000417764.1:p.Leu99=
NM_033087.3:c.297C>G NP_149078.1:p.Leu99=
NR_024532.1:n.367C>G
NM_033087.4:c.297C>G MANE Select NP_149078.1:p.Leu99=
NR_024532.2:n.345C>G
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