Canonical Allele Identifier: CA275654

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204084
• ClinVar RCV Id: RCV000186290 ; RCV001852424
• dbSNP Id: rs180177185
• gnomAD v4: 2-240869248-G-C
• MyVariant Identifiers: chr2:g.241808665G>C (hg19) ; chr2:g.240869248G>C (hg38)
• PubMed: PMID:10960483 ; PMID:15253729 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869248G>C , CM000664.2:g.240869248G>C	GRCh38
NC_000002.11:g.241808665G>C , CM000664.1:g.241808665G>C	GRCh37
NC_000002.10:g.241457338G>C	NCBI36
NG_008005.1:g.5504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.244G>C MANE Select	ENSP00000302620.3:p.Gly82Arg
ENST00000307503.3:c.244G>C	ENSP00000302620.3:p.Gly82Arg
ENST00000472436.1:n.264G>C
NM_000030.2:c.244G>C	NP_000021.1:p.Gly82Arg
XR_924060.1:n.405+985C>G
NM_000030.3:c.244G>C MANE Select	NP_000021.1:p.Gly82Arg