Canonical Allele Identifier: CA274296

Gene: AGXT

Linked Data

• ClinVar Variation Id: 189035
• ClinVar RCV Id: RCV000169425 ; RCV003556212
• dbSNP Id: rs180177259
• MyVariant Identifiers: chr2:g.241814582G>A (hg19) ; chr2:g.240875165G>A (hg38)
• PubMed: PMID:17460142 ; PMID:17495019 ; PMID:24988064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875165G>A , CM000664.2:g.240875165G>A	GRCh38
NC_000002.11:g.241814582G>A , CM000664.1:g.241814582G>A	GRCh37
NC_000002.10:g.241463255G>A	NCBI36
NG_008005.1:g.11421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.737G>A MANE Select	ENSP00000302620.3:p.Trp246Ter
ENST00000307503.3:c.737G>A	ENSP00000302620.3:p.Trp246Ter
ENST00000476698.1:n.389G>A
NM_000030.2:c.737G>A	NP_000021.1:p.Trp246Ter
NM_000030.3:c.737G>A MANE Select	NP_000021.1:p.Trp246Ter