Canonical Allele Identifier: CA275794

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204154
• ClinVar RCV Id: RCV000186361 ; RCV003556226 ; RCV003330551
• dbSNP Id: rs111996685
• gnomAD v4: 2-240874063-G-A
• MyVariant Identifiers: chr2:g.241813480G>A (hg19) ; chr2:g.240874063G>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240874063G>A , CM000664.2:g.240874063G>A	GRCh38
NC_000002.11:g.241813480G>A , CM000664.1:g.241813480G>A	GRCh37
NC_000002.10:g.241462153G>A	NCBI36
NG_008005.1:g.10319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.680+1G>A MANE Select	ENSP00000302620.3:n.680+1G>A
ENST00000307503.3:c.680+1G>A	ENSP00000302620.3:n.680+1G>A
ENST00000476698.1:n.332+1014G>A
NM_000030.2:c.680+1G>A	NP_000021.1:n.680+1G>A
NM_000030.3:c.680+1G>A MANE Select	NP_000021.1:n.680+1G>A