Canonical Allele Identifier: CA359403842
Gene: AGXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998775C>T , CM000667.2:g.34998775C>T GRCh38
NC_000005.9:g.34998880C>T , CM000667.1:g.34998880C>T GRCh37
NC_000005.8:g.35034637C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231420.11:c.1489G>A MANE Select ENSP00000231420.6:p.Ala497Thr
ENST00000231420.10:c.1489G>A ENSP00000231420.6:p.Ala497Thr
ENST00000510428.1:c.1264G>A ENSP00000422799.1:p.Ala422Thr
ENST00000512135.5:n.1159G>A
ENST00000618015.4:c.1264G>A ENSP00000479154.1:p.Ala422Thr
NM_001306173.1:c.1264G>A NP_001293102.1:p.Ala422Thr
NM_031900.3:c.1489G>A NP_114106.1:p.Ala497Thr
XM_005248337.2:c.1486G>A XP_005248394.1:p.Ala496Thr
XM_005248338.2:c.1294G>A XP_005248395.1:p.Ala432Thr
XM_011514077.1:c.1438-373G>A XP_011512379.1:n.1438-373G>A
XM_005248337.3:c.1486G>A XP_005248394.1:p.Ala496Thr
XM_005248338.3:c.1294G>A XP_005248395.1:p.Ala432Thr
XM_017009748.2:c.1264G>A XP_016865237.1:p.Ala422Thr
NM_031900.4:c.1489G>A MANE Select NP_114106.1:p.Ala497Thr
NM_001306173.2:c.1264G>A NP_001293102.1:p.Ala422Thr