Canonical Allele Identifier: CA359404135
Gene: AGXT2 HGNC NCBI

Linked Data

gnomAD v4: 5-34998813-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998813G>T , CM000667.2:g.34998813G>T GRCh38
NC_000005.9:g.34998918G>T , CM000667.1:g.34998918G>T GRCh37
NC_000005.8:g.35034675G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1451C>A MANE Select ENSP00000231420.6:p.Ala484Glu
ENST00000231420.10:c.1451C>A ENSP00000231420.6:p.Ala484Glu
ENST00000510428.1:c.1226C>A ENSP00000422799.1:p.Ala409Glu
ENST00000512135.5:n.1121C>A
ENST00000618015.4:c.1226C>A ENSP00000479154.1:p.Ala409Glu
NM_001306173.1:c.1226C>A NP_001293102.1:p.Ala409Glu
NM_031900.3:c.1451C>A NP_114106.1:p.Ala484Glu
XM_005248337.2:c.1448C>A XP_005248394.1:p.Ala483Glu
XM_005248338.2:c.1256C>A XP_005248395.1:p.Ala419Glu
XM_011514077.1:c.1438-411C>A XP_011512379.1:n.1438-411C>A
XM_005248337.3:c.1448C>A XP_005248394.1:p.Ala483Glu
XM_005248338.3:c.1256C>A XP_005248395.1:p.Ala419Glu
XM_017009748.2:c.1226C>A XP_016865237.1:p.Ala409Glu
NM_031900.4:c.1451C>A MANE Select NP_114106.1:p.Ala484Glu
NM_001306173.2:c.1226C>A NP_001293102.1:p.Ala409Glu