Canonical Allele Identifier: CA340448

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5650
• ClinVar RCV Id: RCV000006004 ; RCV001851686 ; RCV002265548
• dbSNP Id: rs121908530
• ExAC: 2:241810808 G / A
• gnomAD v2: 2-241810808-G-A
• gnomAD v3: 2-240871391-G-A
• gnomAD v4: 2-240871391-G-A
• COSMIC: COSM1244655
• MyVariant Identifiers: chr2:g.241810808G>A (hg19) ; chr2:g.240871391G>A (hg38)
• PubMed: PMID:10453743 ; PMID:10541294 ; PMID:16971151 ; PMID:17460142 ; PMID:17495019 ; PMID:20301460 ; PMID:23810941 ; PMID:24988064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871391G>A , CM000664.2:g.240871391G>A	GRCh38
NC_000002.11:g.241810808G>A , CM000664.1:g.241810808G>A	GRCh37
NC_000002.10:g.241459481G>A	NCBI36
NG_008005.1:g.7647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.466G>A MANE Select	ENSP00000302620.3:p.Gly156Arg
ENST00000307503.3:c.466G>A	ENSP00000302620.3:p.Gly156Arg
ENST00000472436.1:n.486G>A
ENST00000476698.1:n.203G>A
NM_000030.2:c.466G>A	NP_000021.1:p.Gly156Arg
NM_000030.3:c.466G>A MANE Select	NP_000021.1:p.Gly156Arg