Canonical Allele Identifier: CA466648937

Gene: ALG2

Linked Data

• MyVariant Identifiers: chr9:g.101983865G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221583G>C , CM000671.2:g.99221583G>C	GRCh38
NC_000009.11:g.101983865G>C , CM000671.1:g.101983865G>C	GRCh37
NC_000009.10:g.101023686G>C	NCBI36
NG_008928.1:g.5382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.312C>G MANE Select	ENSP00000417764.1:p.Leu104=
ENST00000238477.5:c.312C>G	ENSP00000432675.2:p.Leu104=
ENST00000476832.1:c.312C>G	ENSP00000417764.1:p.Leu104=
NM_033087.3:c.312C>G	NP_149078.1:p.Leu104=
NR_024532.1:n.382C>G
NM_033087.4:c.312C>G MANE Select	NP_149078.1:p.Leu104=
NR_024532.2:n.360C>G