Canonical Allele Identifier: CA275728

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204121
• ClinVar RCV Id: RCV000186327 ; RCV003556224
• dbSNP Id: rs180177252
• ExAC: 2:241813445 G / A
• gnomAD v2: 2-241813445-G-A
• gnomAD v4: 2-240874028-G-A
• MyVariant Identifiers: chr2:g.241813445G>A (hg19) ; chr2:g.240874028G>A (hg38)
• PubMed: PMID:17460142

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240874028G>A , CM000664.2:g.240874028G>A	GRCh38
NC_000002.11:g.241813445G>A , CM000664.1:g.241813445G>A	GRCh37
NC_000002.10:g.241462118G>A	NCBI36
NG_008005.1:g.10284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.646G>A MANE Select	ENSP00000302620.3:p.Gly216Arg
ENST00000307503.3:c.646G>A	ENSP00000302620.3:p.Gly216Arg
ENST00000476698.1:n.332+979G>A
NM_000030.2:c.646G>A	NP_000021.1:p.Gly216Arg
NM_000030.3:c.646G>A MANE Select	NP_000021.1:p.Gly216Arg