Canonical Allele Identifier: CA274217

Gene: AGXT

Linked Data

• ClinVar Variation Id: 188986
• ClinVar RCV Id: RCV001328117
• dbSNP Id: rs180177156
• ExAC: 2:241817545 G / A
• gnomAD v2: 2-241817545-G-A
• gnomAD v3: 2-240878128-G-A
• gnomAD v4: 2-240878128-G-A
• MyVariant Identifiers: chr2:g.241817545G>A (hg19) ; chr2:g.240878128G>A (hg38)
• PubMed: PMID:9604803 ; PMID:15961945 ; PMID:18282470 ; PMID:22018727 ; PMID:22923379 ; PMID:23551880

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878128G>A , CM000664.2:g.240878128G>A	GRCh38
NC_000002.11:g.241817545G>A , CM000664.1:g.241817545G>A	GRCh37
NC_000002.10:g.241466218G>A	NCBI36
NG_008005.1:g.14384G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.1049G>A MANE Select	ENSP00000302620.3:p.Gly350Asp
ENST00000307503.3:c.1049G>A	ENSP00000302620.3:p.Gly350Asp
ENST00000470255.1:n.827G>A
NM_000030.2:c.1049G>A	NP_000021.1:p.Gly350Asp
NM_000030.3:c.1049G>A MANE Select	NP_000021.1:p.Gly350Asp