Canonical Allele Identifier: CA351316895
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2681181
ClinVar RCV Id: RCV003468706
MyVariant Identifiers: chr2:g.241813431T>G (hg19) chr2:g.240874014T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874014T>G , CM000664.2:g.240874014T>G GRCh38
NC_000002.11:g.241813431T>G , CM000664.1:g.241813431T>G GRCh37
NC_000002.10:g.241462104T>G NCBI36
NG_008005.1:g.10270T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.632T>G MANE Select ENSP00000302620.3:p.Leu211Arg
ENST00000307503.3:c.632T>G ENSP00000302620.3:p.Leu211Arg
ENST00000476698.1:n.332+965T>G
NM_000030.2:c.632T>G NP_000021.1:p.Leu211Arg
NM_000030.3:c.632T>G MANE Select NP_000021.1:p.Leu211Arg
Search 100 bp 5'
Search 100 bp 3'