Canonical Allele Identifier: CA68173284

Gene: AGXT

Linked Data

• ClinVar Variation Id: 1191369
• ClinVar RCV Id: RCV001552417
• dbSNP Id: rs73106670
• gnomAD v2: 2-241808050-G-C
• gnomAD v3: 2-240868633-G-C
• gnomAD v4: 2-240868633-G-C
• MyVariant Identifiers: chr2:g.241808050G>C (hg19) ; chr2:g.240868633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868633G>C , CM000664.2:g.240868633G>C	GRCh38
NC_000002.11:g.241808050G>C , CM000664.1:g.241808050G>C	GRCh37
NC_000002.10:g.241456723G>C	NCBI36
NG_008005.1:g.4889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.3:c.-233G>C	ENSP00000302620.3:n.-233G>C
XR_924060.1:n.405+1600C>G