Canonical Allele Identifier: CA274089

Gene: AGXT

Linked Data

• ClinVar Variation Id: 188891
• ClinVar RCV Id: RCV000169249 ; RCV000812967
• dbSNP Id: rs180177197
• ExAC: 2:241808743 T / C
• gnomAD v2: 2-241808743-T-C
• gnomAD v4: 2-240869326-T-C
• MyVariant Identifiers: chr2:g.241808743T>C (hg19) ; chr2:g.240869326T>C (hg38)
• PubMed: PMID:9604803 ; PMID:11562405 ; PMID:12768081 ; PMID:15464418 ; PMID:15961946 ; PMID:16971151 ; PMID:17460142 ; PMID:18448374 ; PMID:22018727 ; PMID:22923379 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869326T>C , CM000664.2:g.240869326T>C	GRCh38
NC_000002.11:g.241808743T>C , CM000664.1:g.241808743T>C	GRCh37
NC_000002.10:g.241457416T>C	NCBI36
NG_008005.1:g.5582T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.322T>C MANE Select	ENSP00000302620.3:p.Trp108Arg
ENST00000307503.3:c.322T>C	ENSP00000302620.3:p.Trp108Arg
ENST00000472436.1:n.342T>C
NM_000030.2:c.322T>C	NP_000021.1:p.Trp108Arg
XR_924060.1:n.405+907A>G
NM_000030.3:c.322T>C MANE Select	NP_000021.1:p.Trp108Arg