Canonical Allele Identifier: CA275698

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204105
• ClinVar RCV Id: RCV000186311 ; RCV000662317 ; RCV001069631 ; RCV003226241
• dbSNP Id: rs180177227
• ExAC: 2:241810823 G / A
• gnomAD v2: 2-241810823-G-A
• gnomAD v3: 2-240871406-G-A
• gnomAD v4: 2-240871406-G-A
• MyVariant Identifiers: chr2:g.241810823G>A (hg19) ; chr2:g.240871406G>A (hg38)
• PubMed: PMID:17495019 ; PMID:24055001 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871406G>A , CM000664.2:g.240871406G>A	GRCh38
NC_000002.11:g.241810823G>A , CM000664.1:g.241810823G>A	GRCh37
NC_000002.10:g.241459496G>A	NCBI36
NG_008005.1:g.7662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.481G>A MANE Select	ENSP00000302620.3:p.Gly161Ser
ENST00000307503.3:c.481G>A	ENSP00000302620.3:p.Gly161Ser
ENST00000472436.1:n.501G>A
ENST00000476698.1:n.218G>A
NM_000030.2:c.481G>A	NP_000021.1:p.Gly161Ser
NM_000030.3:c.481G>A MANE Select	NP_000021.1:p.Gly161Ser