Canonical Allele Identifier: CA359403587
Gene: AGXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998739T>G , CM000667.2:g.34998739T>G GRCh38
NC_000005.9:g.34998844T>G , CM000667.1:g.34998844T>G GRCh37
NC_000005.8:g.35034601T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1525A>C MANE Select ENSP00000231420.6:p.Met509Leu
ENST00000231420.10:c.1525A>C ENSP00000231420.6:p.Met509Leu
ENST00000510428.1:c.1300A>C ENSP00000422799.1:p.Met434Leu
ENST00000512135.5:n.1195A>C
ENST00000618015.4:c.1300A>C ENSP00000479154.1:p.Met434Leu
NM_001306173.1:c.1300A>C NP_001293102.1:p.Met434Leu
NM_031900.3:c.1525A>C NP_114106.1:p.Met509Leu
XM_005248337.2:c.1522A>C XP_005248394.1:p.Met508Leu
XM_005248338.2:c.1330A>C XP_005248395.1:p.Met444Leu
XM_011514077.1:c.1438-337A>C XP_011512379.1:n.1438-337A>C
XM_005248337.3:c.1522A>C XP_005248394.1:p.Met508Leu
XM_005248338.3:c.1330A>C XP_005248395.1:p.Met444Leu
XM_017009748.2:c.1300A>C XP_016865237.1:p.Met434Leu
NM_031900.4:c.1525A>C MANE Select NP_114106.1:p.Met509Leu
NM_001306173.2:c.1300A>C NP_001293102.1:p.Met434Leu