Canonical Allele Identifier: CA5156417

Gene: ALG2

Linked Data

• ClinVar Variation Id: 464895
• ClinVar RCV Id: RCV000529080 ; RCV003317265 ; RCV003942791
• dbSNP Id: rs368075764
• ExAC: 9:101983823 C / T
• gnomAD v2: 9-101983823-C-T
• gnomAD v3: 9-99221541-C-T
• gnomAD v4: 9-99221541-C-T
• MyVariant Identifiers: chr9:g.101983823C>T (hg19) ; chr9:g.99221541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221541C>T , CM000671.2:g.99221541C>T	GRCh38
NC_000009.11:g.101983823C>T , CM000671.1:g.101983823C>T	GRCh37
NC_000009.10:g.101023644C>T	NCBI36
NG_008928.1:g.5424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.348+6G>A MANE Select	ENSP00000417764.1:n.348+6G>A
ENST00000238477.5:c.348+6G>A	ENSP00000432675.2:n.348+6G>A
ENST00000476832.1:c.348+6G>A	ENSP00000417764.1:n.348+6G>A
NM_033087.3:c.348+6G>A	NP_149078.1:n.348+6G>A
NR_024532.1:n.418+6G>A
NM_033087.4:c.348+6G>A MANE Select	NP_149078.1:n.348+6G>A
NR_024532.2:n.396+6G>A