Canonical Allele Identifier: CA253542

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5642
• ClinVar RCV Id: RCV000005996 ; RCV003555932
• dbSNP Id: rs121908521
• gnomAD v2: 2-241808619-C-G
• gnomAD v4: 2-240869202-C-G
• MyVariant Identifiers: chr2:g.241808619C>G (hg19) ; chr2:g.240869202C>G (hg38)
• PubMed: PMID:1879825 ; PMID:1961759

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869202C>G , CM000664.2:g.240869202C>G	GRCh38
NC_000002.11:g.241808619C>G , CM000664.1:g.241808619C>G	GRCh37
NC_000002.10:g.241457292C>G	NCBI36
NG_008005.1:g.5458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.198C>G MANE Select	ENSP00000302620.3:p.Tyr66Ter
ENST00000307503.3:c.198C>G	ENSP00000302620.3:p.Tyr66Ter
ENST00000472436.1:n.218C>G
NM_000030.2:c.198C>G	NP_000021.1:p.Tyr66Ter
XR_924060.1:n.405+1031G>C
NM_000030.3:c.198C>G MANE Select	NP_000021.1:p.Tyr66Ter