Canonical Allele Identifier: CA275668

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204091
• ClinVar RCV Id: RCV000186297 ; RCV001384603 ; RCV003330550
• dbSNP Id: rs180177202
• gnomAD v4: 2-240869335-C-T
• MyVariant Identifiers: chr2:g.241808752C>T (hg19) ; chr2:g.240869335C>T (hg38)
• PubMed: PMID:15110324

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869335C>T , CM000664.2:g.240869335C>T	GRCh38
NC_000002.11:g.241808752C>T , CM000664.1:g.241808752C>T	GRCh37
NC_000002.10:g.241457425C>T	NCBI36
NG_008005.1:g.5591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.331C>T MANE Select	ENSP00000302620.3:p.Arg111Ter
ENST00000307503.3:c.331C>T	ENSP00000302620.3:p.Arg111Ter
ENST00000472436.1:n.351C>T
NM_000030.2:c.331C>T	NP_000021.1:p.Arg111Ter
XR_924060.1:n.405+898G>A
NM_000030.3:c.331C>T MANE Select	NP_000021.1:p.Arg111Ter