Canonical Allele Identifier: CA359404215
Gene: AGXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998826T>G , CM000667.2:g.34998826T>G GRCh38
NC_000005.9:g.34998931T>G , CM000667.1:g.34998931T>G GRCh37
NC_000005.8:g.35034688T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1438A>C MANE Select ENSP00000231420.6:p.Thr480Pro
ENST00000231420.10:c.1438A>C ENSP00000231420.6:p.Thr480Pro
ENST00000510428.1:c.1213A>C ENSP00000422799.1:p.Thr405Pro
ENST00000512135.5:n.1108A>C
ENST00000618015.4:c.1213A>C ENSP00000479154.1:p.Thr405Pro
NM_001306173.1:c.1213A>C NP_001293102.1:p.Thr405Pro
NM_031900.3:c.1438A>C NP_114106.1:p.Thr480Pro
XM_005248337.2:c.1435A>C XP_005248394.1:p.Thr479Pro
XM_005248338.2:c.1243A>C XP_005248395.1:p.Thr415Pro
XM_011514077.1:c.1438-424A>C XP_011512379.1:n.1438-424A>C
XM_005248337.3:c.1435A>C XP_005248394.1:p.Thr479Pro
XM_005248338.3:c.1243A>C XP_005248395.1:p.Thr415Pro
XM_017009748.2:c.1213A>C XP_016865237.1:p.Thr405Pro
NM_031900.4:c.1438A>C MANE Select NP_114106.1:p.Thr480Pro
NM_001306173.2:c.1213A>C NP_001293102.1:p.Thr405Pro