Canonical Allele Identifier: CA68173303

Gene: AGXT

Linked Data

• dbSNP Id: rs988848311
• gnomAD v4: 2-240868687-G-A
• MyVariant Identifiers: chr2:g.241808104G>A (hg19) ; chr2:g.240868687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868687G>A , CM000664.2:g.240868687G>A	GRCh38
NC_000002.11:g.241808104G>A , CM000664.1:g.241808104G>A	GRCh37
NC_000002.10:g.241456777G>A	NCBI36
NG_008005.1:g.4943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-179G>A	ENSP00000302620.3:n.-179G>A
XR_924060.1:n.405+1546C>T