Canonical Allele Identifier: CA247930

Gene: AGXT

Linked Data

• ClinVar Variation Id: 198982
• ClinVar RCV Id: RCV000186341 ; RCV000587981 ; RCV002265666
• dbSNP Id: rs61729604
• ExAC: 2:241816973 G / A
• gnomAD v2: 2-241816973-G-A
• gnomAD v3: 2-240877556-G-A
• gnomAD v4: 2-240877556-G-A
• COSMIC: COSM1406873
• MyVariant Identifiers: chr2:g.241816973G>A (hg19) ; chr2:g.240877556G>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877556G>A , CM000664.2:g.240877556G>A	GRCh38
NC_000002.11:g.241816973G>A , CM000664.1:g.241816973G>A	GRCh37
NC_000002.10:g.241465646G>A	NCBI36
NG_008005.1:g.13812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.866G>A MANE Select	ENSP00000302620.3:p.Arg289His
ENST00000307503.3:c.866G>A	ENSP00000302620.3:p.Arg289His
ENST00000470255.1:n.644G>A
NM_000030.2:c.866G>A	NP_000021.1:p.Arg289His
NM_000030.3:c.866G>A MANE Select	NP_000021.1:p.Arg289His