Canonical Allele Identifier: CA432234776
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1972288
ClinVar RCV Id: RCV002746076
MyVariant Identifiers: chr2:g.241808637C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869220C>T , CM000664.2:g.240869220C>T GRCh38
NC_000002.11:g.241808637C>T , CM000664.1:g.241808637C>T GRCh37
NC_000002.10:g.241457310C>T NCBI36
NG_008005.1:g.5476C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.216C>T MANE Select ENSP00000302620.3:p.Asn72=
ENST00000307503.3:c.216C>T ENSP00000302620.3:p.Asn72=
ENST00000472436.1:n.236C>T
NM_000030.2:c.216C>T NP_000021.1:p.Asn72=
XR_924060.1:n.405+1013G>A
NM_000030.3:c.216C>T MANE Select NP_000021.1:p.Asn72=