Canonical Allele Identifier: CA466649048
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983946T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221664T>C , CM000671.2:g.99221664T>C GRCh38
NC_000009.11:g.101983946T>C , CM000671.1:g.101983946T>C GRCh37
NC_000009.10:g.101023767T>C NCBI36
NG_008928.1:g.5301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.231A>G MANE Select ENSP00000417764.1:p.Arg77=
ENST00000238477.5:c.231A>G ENSP00000432675.2:p.Arg77=
ENST00000476832.1:c.231A>G ENSP00000417764.1:p.Arg77=
NM_033087.3:c.231A>G NP_149078.1:p.Arg77=
NR_024532.1:n.301A>G
NM_033087.4:c.231A>G MANE Select NP_149078.1:p.Arg77=
NR_024532.2:n.279A>G