Canonical Allele Identifier: CA275671

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204092
• ClinVar RCV Id: RCV000186298 ; RCV002305454
• dbSNP Id: rs180177203
• ExAC: 2:241808753 G / A
• gnomAD v2: 2-241808753-G-A
• gnomAD v3: 2-240869336-G-A
• gnomAD v4: 2-240869336-G-A
• MyVariant Identifiers: chr2:g.241808753G>A (hg19) ; chr2:g.240869336G>A (hg38)
• PubMed: PMID:19479957 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869336G>A , CM000664.2:g.240869336G>A	GRCh38
NC_000002.11:g.241808753G>A , CM000664.1:g.241808753G>A	GRCh37
NC_000002.10:g.241457426G>A	NCBI36
NG_008005.1:g.5592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.332G>A MANE Select	ENSP00000302620.3:p.Arg111Gln
ENST00000307503.3:c.332G>A	ENSP00000302620.3:p.Arg111Gln
ENST00000472436.1:n.352G>A
NM_000030.2:c.332G>A	NP_000021.1:p.Arg111Gln
XR_924060.1:n.405+897C>T
NM_000030.3:c.332G>A MANE Select	NP_000021.1:p.Arg111Gln