Canonical Allele Identifier: CA275732

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204123
• ClinVar RCV Id: RCV000186329 ; RCV001857590
• dbSNP Id: rs121908527
• gnomAD v4: 2-240875126-G-T
• COSMIC: COSM6091195
• MyVariant Identifiers: chr2:g.241814543G>T (hg19) ; chr2:g.240875126G>T (hg38)
• PubMed: PMID:15849466

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875126G>T , CM000664.2:g.240875126G>T	GRCh38
NC_000002.11:g.241814543G>T , CM000664.1:g.241814543G>T	GRCh37
NC_000002.10:g.241463216G>T	NCBI36
NG_008005.1:g.11382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.698G>T MANE Select	ENSP00000302620.3:p.Arg233Leu
ENST00000307503.3:c.698G>T	ENSP00000302620.3:p.Arg233Leu
ENST00000476698.1:n.350G>T
NM_000030.2:c.698G>T	NP_000021.1:p.Arg233Leu
NM_000030.3:c.698G>T MANE Select	NP_000021.1:p.Arg233Leu