Canonical Allele Identifier: CA275809

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204169
• ClinVar RCV Id: RCV000186376 ; RCV000803735
• dbSNP Id: rs180177286
• gnomAD v2: 2-241816951-C-G
• gnomAD v3: 2-240877534-C-G
• gnomAD v4: 2-240877534-C-G
• MyVariant Identifiers: chr2:g.241816951C>G (hg19) ; chr2:g.240877534C>G (hg38)
• PubMed: PMID:10862087 ; PMID:15110324 ; PMID:20544097 ; PMID:22844106 ; PMID:25363903 ; PMID:25629080 ; PMID:25644115

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877534C>G , CM000664.2:g.240877534C>G	GRCh38
NC_000002.11:g.241816951C>G , CM000664.1:g.241816951C>G	GRCh37
NC_000002.10:g.241465624C>G	NCBI36
NG_008005.1:g.13790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.847-3C>G MANE Select	ENSP00000302620.3:n.847-3C>G
ENST00000307503.3:c.847-3C>G	ENSP00000302620.3:n.847-3C>G
ENST00000470255.1:n.622C>G
NM_000030.2:c.847-3C>G	NP_000021.1:n.847-3C>G
NM_000030.3:c.847-3C>G MANE Select	NP_000021.1:n.847-3C>G