Canonical Allele Identifier: CA5156463

Gene: ALG2

Linked Data

• ClinVar Variation Id: 382799
• ClinVar RCV Id: RCV000428835 ; RCV000538249 ; RCV003480628
• dbSNP Id: rs201959100
• ExAC: 9:101984010 G / A
• gnomAD v2: 9-101984010-G-A
• gnomAD v3: 9-99221728-G-A
• gnomAD v4: 9-99221728-G-A
• COSMIC: COSM3699312
• MyVariant Identifiers: chr9:g.101984010G>A (hg19) ; chr9:g.99221728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221728G>A , CM000671.2:g.99221728G>A	GRCh38
NC_000009.11:g.101984010G>A , CM000671.1:g.101984010G>A	GRCh37
NC_000009.10:g.101023831G>A	NCBI36
NG_008928.1:g.5237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.167C>T MANE Select	ENSP00000417764.1:p.Pro56Leu
ENST00000238477.5:c.167C>T	ENSP00000432675.2:p.Pro56Leu
ENST00000476832.1:c.167C>T	ENSP00000417764.1:p.Pro56Leu
NM_033087.3:c.167C>T	NP_149078.1:p.Pro56Leu
NR_024532.1:n.237C>T
NM_033087.4:c.167C>T MANE Select	NP_149078.1:p.Pro56Leu
NR_024532.2:n.215C>T