Canonical Allele Identifier: CA340442

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5643
• ClinVar RCV Id: RCV000005997 ; RCV001851685 ; RCV003234894
• dbSNP Id: rs121908522
• ExAC: 2:241808666 G / A
• gnomAD v2: 2-241808666-G-A
• gnomAD v4: 2-240869249-G-A
• MyVariant Identifiers: chr2:g.241808666G>A (hg19) ; chr2:g.240869249G>A (hg38)
• PubMed: PMID:1349575 ; PMID:10960483 ; PMID:17696873 ; PMID:18282470 ; PMID:20301460 ; PMID:24988064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869249G>A , CM000664.2:g.240869249G>A	GRCh38
NC_000002.11:g.241808666G>A , CM000664.1:g.241808666G>A	GRCh37
NC_000002.10:g.241457339G>A	NCBI36
NG_008005.1:g.5505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.245G>A MANE Select	ENSP00000302620.3:p.Gly82Glu
ENST00000307503.3:c.245G>A	ENSP00000302620.3:p.Gly82Glu
ENST00000472436.1:n.265G>A
NM_000030.2:c.245G>A	NP_000021.1:p.Gly82Glu
XR_924060.1:n.405+984C>T
NM_000030.3:c.245G>A MANE Select	NP_000021.1:p.Gly82Glu