Canonical Allele Identifier: CA466648975
Gene: ALG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101983886C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221604C>A , CM000671.2:g.99221604C>A GRCh38
NC_000009.11:g.101983886C>A , CM000671.1:g.101983886C>A GRCh37
NC_000009.10:g.101023707C>A NCBI36
NG_008928.1:g.5361G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.291G>T MANE Select ENSP00000417764.1:p.Leu97=
ENST00000238477.5:c.291G>T ENSP00000432675.2:p.Leu97=
ENST00000476832.1:c.291G>T ENSP00000417764.1:p.Leu97=
NM_033087.3:c.291G>T NP_149078.1:p.Leu97=
NR_024532.1:n.361G>T
NM_033087.4:c.291G>T MANE Select NP_149078.1:p.Leu97=
NR_024532.2:n.339G>T