Canonical Allele Identifier: CA466648986
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983898G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221616G>T , CM000671.2:g.99221616G>T GRCh38
NC_000009.11:g.101983898G>T , CM000671.1:g.101983898G>T GRCh37
NC_000009.10:g.101023719G>T NCBI36
NG_008928.1:g.5349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.279C>A MANE Select ENSP00000417764.1:p.Arg93=
ENST00000238477.5:c.279C>A ENSP00000432675.2:p.Arg93=
ENST00000476832.1:c.279C>A ENSP00000417764.1:p.Arg93=
NM_033087.3:c.279C>A NP_149078.1:p.Arg93=
NR_024532.1:n.349C>A
NM_033087.4:c.279C>A MANE Select NP_149078.1:p.Arg93=
NR_024532.2:n.327C>A