Canonical Allele Identifier: CA5156423
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 364211
ClinVar RCV Id: RCV000640603
dbSNP Id: rs749236548
ExAC: 9:101983873 G / A
gnomAD v2: 9-101983873-G-A
gnomAD v3: 9-99221591-G-A
gnomAD v4: 9-99221591-G-A
MyVariant Identifiers: chr9:g.101983873G>A (hg19) chr9:g.99221591G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221591G>A , CM000671.2:g.99221591G>A GRCh38
NC_000009.11:g.101983873G>A , CM000671.1:g.101983873G>A GRCh37
NC_000009.10:g.101023694G>A NCBI36
NG_008928.1:g.5374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.304C>T MANE Select ENSP00000417764.1:p.Leu102=
ENST00000238477.5:c.304C>T ENSP00000432675.2:p.Leu102=
ENST00000476832.1:c.304C>T ENSP00000417764.1:p.Leu102=
NM_033087.3:c.304C>T NP_149078.1:p.Leu102=
NR_024532.1:n.374C>T
NM_033087.4:c.304C>T MANE Select NP_149078.1:p.Leu102=
NR_024532.2:n.352C>T
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