Canonical Allele Identifier: CA5156422
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs769640531
ExAC: 9:101983868 G / T
gnomAD v2: 9-101983868-G-T
gnomAD v4: 9-99221586-G-T
MyVariant Identifiers: chr9:g.101983868G>T (hg19) chr9:g.99221586G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221586G>T , CM000671.2:g.99221586G>T GRCh38
NC_000009.11:g.101983868G>T , CM000671.1:g.101983868G>T GRCh37
NC_000009.10:g.101023689G>T NCBI36
NG_008928.1:g.5379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.309C>A MANE Select ENSP00000417764.1:p.Phe103Leu
ENST00000238477.5:c.309C>A ENSP00000432675.2:p.Phe103Leu
ENST00000476832.1:c.309C>A ENSP00000417764.1:p.Phe103Leu
NM_033087.3:c.309C>A NP_149078.1:p.Phe103Leu
NR_024532.1:n.379C>A
NM_033087.4:c.309C>A MANE Select NP_149078.1:p.Phe103Leu
NR_024532.2:n.357C>A
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