Canonical Allele Identifier: CA275715

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204115
• ClinVar RCV Id: RCV000186321 ; RCV001222818
• dbSNP Id: rs180177246
• ExAC: 2:241813402 C / A
• gnomAD v2: 2-241813402-C-A
• gnomAD v3: 2-240873985-C-A
• gnomAD v4: 2-240873985-C-A
• MyVariant Identifiers: chr2:g.241813402C>A (hg19) ; chr2:g.240873985C>A (hg38)
• PubMed: PMID:15849466 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873985C>A , CM000664.2:g.240873985C>A	GRCh38
NC_000002.11:g.241813402C>A , CM000664.1:g.241813402C>A	GRCh37
NC_000002.10:g.241462075C>A	NCBI36
NG_008005.1:g.10241C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.603C>A MANE Select	ENSP00000302620.3:p.Asp201Glu
ENST00000307503.3:c.603C>A	ENSP00000302620.3:p.Asp201Glu
ENST00000476698.1:n.332+936C>A
NM_000030.2:c.603C>A	NP_000021.1:p.Asp201Glu
NM_000030.3:c.603C>A MANE Select	NP_000021.1:p.Asp201Glu