Canonical Allele Identifier: CA340447

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5649
• ClinVar RCV Id: RCV000006003 ; RCV003555933
• dbSNP Id: rs121908528
• gnomAD v4: 2-240875166-G-A
• MyVariant Identifiers: chr2:g.241814583G>A (hg19) ; chr2:g.240875166G>A (hg38)
• PubMed: PMID:9192270 ; PMID:20301460

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875166G>A , CM000664.2:g.240875166G>A	GRCh38
NC_000002.11:g.241814583G>A , CM000664.1:g.241814583G>A	GRCh37
NC_000002.10:g.241463256G>A	NCBI36
NG_008005.1:g.11422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.738G>A MANE Select	ENSP00000302620.3:p.Trp246Ter
ENST00000307503.3:c.738G>A	ENSP00000302620.3:p.Trp246Ter
ENST00000476698.1:n.390G>A
NM_000030.2:c.738G>A	NP_000021.1:p.Trp246Ter
NM_000030.3:c.738G>A MANE Select	NP_000021.1:p.Trp246Ter