Canonical Allele Identifier: CA374231426
Gene: ALG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221608A>G , CM000671.2:g.99221608A>G GRCh38
NC_000009.11:g.101983890A>G , CM000671.1:g.101983890A>G GRCh37
NC_000009.10:g.101023711A>G NCBI36
NG_008928.1:g.5357T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.287T>C MANE Select ENSP00000417764.1:p.Phe96Ser
ENST00000238477.5:c.287T>C ENSP00000432675.2:p.Phe96Ser
ENST00000476832.1:c.287T>C ENSP00000417764.1:p.Phe96Ser
NM_033087.3:c.287T>C NP_149078.1:p.Phe96Ser
NR_024532.1:n.357T>C
NM_033087.4:c.287T>C MANE Select NP_149078.1:p.Phe96Ser
NR_024532.2:n.335T>C