Canonical Allele Identifier: CA275636

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204076
• ClinVar RCV Id: RCV000186282 ; RCV001067805
• dbSNP Id: rs180177173
• gnomAD v2: 2-241808421-G-A
• gnomAD v3: 2-240869004-G-A
• gnomAD v4: 2-240869004-G-A
• COSMIC: COSM3910014
• MyVariant Identifiers: chr2:g.241808421G>A (hg19) ; chr2:g.240869004G>A (hg38)
• PubMed: PMID:17460142 ; PMID:22923379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869004G>A , CM000664.2:g.240869004G>A	GRCh38
NC_000002.11:g.241808421G>A , CM000664.1:g.241808421G>A	GRCh37
NC_000002.10:g.241457094G>A	NCBI36
NG_008005.1:g.5260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.139G>A MANE Select	ENSP00000302620.3:p.Gly47Arg
ENST00000307503.3:c.139G>A	ENSP00000302620.3:p.Gly47Arg
ENST00000472436.1:n.159G>A
NM_000030.2:c.139G>A	NP_000021.1:p.Gly47Arg
XR_924060.1:n.405+1229C>T
NM_000030.3:c.139G>A MANE Select	NP_000021.1:p.Gly47Arg