Canonical Allele Identifier: CA275612

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204064
• ClinVar RCV Id: RCV000186270 ; RCV001682895
• dbSNP Id: rs4344931
• gnomAD v2: 2-241818527-A-C
• gnomAD v3: 2-240879110-A-C
• gnomAD v4: 2-240879110-A-C
• MyVariant Identifiers: chr2:g.241818527A>C (hg19) ; chr2:g.240879110A>C (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240879110A>C , CM000664.2:g.240879110A>C	GRCh38
NC_000002.11:g.241818527A>C , CM000664.1:g.241818527A>C	GRCh37
NC_000002.10:g.241467200A>C	NCBI36
NG_008005.1:g.15366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.*289A>C MANE Select	ENSP00000302620.3:n.*289A>C
ENST00000307503.3:c.*289A>C	ENSP00000302620.3:n.*289A>C
ENST00000470255.1:n.1246A>C
NM_000030.2:c.*289A>C	NP_000021.1:n.*289A>C
NM_000030.3:c.*289A>C MANE Select	NP_000021.1:n.*289A>C