Canonical Allele Identifier: CA359403612
Gene: AGXT2 HGNC NCBI

Linked Data

dbSNP Id: rs1452054685
gnomAD v2: 5-34998847-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998742G>A , CM000667.2:g.34998742G>A GRCh38
NC_000005.9:g.34998847G>A , CM000667.1:g.34998847G>A GRCh37
NC_000005.8:g.35034604G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1522C>T MANE Select ENSP00000231420.6:p.His508Tyr
ENST00000231420.10:c.1522C>T ENSP00000231420.6:p.His508Tyr
ENST00000510428.1:c.1297C>T ENSP00000422799.1:p.His433Tyr
ENST00000512135.5:n.1192C>T
ENST00000618015.4:c.1297C>T ENSP00000479154.1:p.His433Tyr
NM_001306173.1:c.1297C>T NP_001293102.1:p.His433Tyr
NM_031900.3:c.1522C>T NP_114106.1:p.His508Tyr
XM_005248337.2:c.1519C>T XP_005248394.1:p.His507Tyr
XM_005248338.2:c.1327C>T XP_005248395.1:p.His443Tyr
XM_011514077.1:c.1438-340C>T XP_011512379.1:n.1438-340C>T
XM_005248337.3:c.1519C>T XP_005248394.1:p.His507Tyr
XM_005248338.3:c.1327C>T XP_005248395.1:p.His443Tyr
XM_017009748.2:c.1297C>T XP_016865237.1:p.His433Tyr
NM_031900.4:c.1522C>T MANE Select NP_114106.1:p.His508Tyr
NM_001306173.2:c.1297C>T NP_001293102.1:p.His433Tyr