Canonical Allele Identifier: CA274318

Gene: AGXT

Linked Data

• ClinVar Variation Id: 189047
• ClinVar RCV Id: RCV000169439 ; RCV000816747
• dbSNP Id: rs180177239
• ExAC: 2:241812439 G / A
• gnomAD v2: 2-241812439-G-A
• gnomAD v4: 2-240873022-G-A
• COSMIC: COSM574425
• MyVariant Identifiers: chr2:g.241812439G>A (hg19) ; chr2:g.240873022G>A (hg38)
• PubMed: PMID:9604803 ; PMID:10541294 ; PMID:17460142 ; PMID:18282470 ; PMID:23810941 ; PMID:24988064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873022G>A , CM000664.2:g.240873022G>A	GRCh38
NC_000002.11:g.241812439G>A , CM000664.1:g.241812439G>A	GRCh37
NC_000002.10:g.241461112G>A	NCBI36
NG_008005.1:g.9278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.568G>A MANE Select	ENSP00000302620.3:p.Gly190Arg
ENST00000307503.3:c.568G>A	ENSP00000302620.3:p.Gly190Arg
ENST00000472436.1:n.588G>A
ENST00000476698.1:n.305G>A
NM_000030.2:c.568G>A	NP_000021.1:p.Gly190Arg
NM_000030.3:c.568G>A MANE Select	NP_000021.1:p.Gly190Arg