Canonical Allele Identifier: CA466648958
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1303380183
gnomAD v2: 9-101983877-G-A
gnomAD v4: 9-99221595-G-A
MyVariant Identifiers: chr9:g.101983877G>A (hg19) chr9:g.99221595G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221595G>A , CM000671.2:g.99221595G>A GRCh38
NC_000009.11:g.101983877G>A , CM000671.1:g.101983877G>A GRCh37
NC_000009.10:g.101023698G>A NCBI36
NG_008928.1:g.5370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.300C>T MANE Select ENSP00000417764.1:p.Tyr100=
ENST00000238477.5:c.300C>T ENSP00000432675.2:p.Tyr100=
ENST00000476832.1:c.300C>T ENSP00000417764.1:p.Tyr100=
NM_033087.3:c.300C>T NP_149078.1:p.Tyr100=
NR_024532.1:n.370C>T
NM_033087.4:c.300C>T MANE Select NP_149078.1:p.Tyr100=
NR_024532.2:n.348C>T
Search 100 bp 5'
Search 100 bp 3'