Canonical Allele Identifier: CA275577

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204040
• ClinVar RCV Id: RCV000186244 ; RCV000251696 ; RCV000357381 ; RCV000974765
• dbSNP Id: rs147601535
• ExAC: 2:241810831 G / A
• gnomAD v2: 2-241810831-G-A
• gnomAD v3: 2-240871414-G-A
• gnomAD v4: 2-240871414-G-A
• COSMIC: COSM2909942
• MyVariant Identifiers: chr2:g.241810831G>A (hg19) ; chr2:g.240871414G>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871414G>A , CM000664.2:g.240871414G>A	GRCh38
NC_000002.11:g.241810831G>A , CM000664.1:g.241810831G>A	GRCh37
NC_000002.10:g.241459504G>A	NCBI36
NG_008005.1:g.7670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.489G>A MANE Select	ENSP00000302620.3:p.Leu163=
ENST00000307503.3:c.489G>A	ENSP00000302620.3:p.Leu163=
ENST00000472436.1:n.509G>A
ENST00000476698.1:n.226G>A
NM_000030.2:c.489G>A	NP_000021.1:p.Leu163=
NM_000030.3:c.489G>A MANE Select	NP_000021.1:p.Leu163=