Canonical Allele Identifier: CA275739

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204128
• ClinVar RCV Id: RCV000186334 ; RCV001852425 ; RCV002282021
• dbSNP Id: rs180177271
• MyVariant Identifiers: chr2:g.241815381T>C (hg19) ; chr2:g.240875964T>C (hg38)
• PubMed: PMID:19479957 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875964T>C , CM000664.2:g.240875964T>C	GRCh38
NC_000002.11:g.241815381T>C , CM000664.1:g.241815381T>C	GRCh37
NC_000002.10:g.241464054T>C	NCBI36
NG_008005.1:g.12220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.806T>C MANE Select	ENSP00000302620.3:p.Leu269Pro
ENST00000307503.3:c.806T>C	ENSP00000302620.3:p.Leu269Pro
ENST00000476698.1:n.458T>C
NM_000030.2:c.806T>C	NP_000021.1:p.Leu269Pro
NM_000030.3:c.806T>C MANE Select	NP_000021.1:p.Leu269Pro