Canonical Allele Identifier: CA2578284420

Gene: AGXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998847A>T , CM000667.2:g.34998847A>T	GRCh38
NC_000005.9:g.34998952A>T , CM000667.1:g.34998952A>T	GRCh37
NC_000005.8:g.35034709A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-21T>A MANE Select	ENSP00000231420.6:n.1438-21T>A
ENST00000231420.10:c.1438-21T>A	ENSP00000231420.6:n.1438-21T>A
ENST00000510428.1:c.1213-21T>A	ENSP00000422799.1:n.1213-21T>A
ENST00000512135.5:n.1108-21T>A
ENST00000618015.4:c.1213-21T>A	ENSP00000479154.1:n.1213-21T>A
NM_001306173.1:c.1213-21T>A	NP_001293102.1:n.1213-21T>A
NM_031900.3:c.1438-21T>A	NP_114106.1:n.1438-21T>A
XM_005248337.2:c.1435-21T>A	XP_005248394.1:n.1435-21T>A
XM_005248338.2:c.1243-21T>A	XP_005248395.1:n.1243-21T>A
XM_011514077.1:c.1438-445T>A	XP_011512379.1:n.1438-445T>A
XM_005248337.3:c.1435-21T>A	XP_005248394.1:n.1435-21T>A
XM_005248338.3:c.1243-21T>A	XP_005248395.1:n.1243-21T>A
XM_017009748.2:c.1213-21T>A	XP_016865237.1:n.1213-21T>A
NM_031900.4:c.1438-21T>A MANE Select	NP_114106.1:n.1438-21T>A
NM_001306173.2:c.1213-21T>A	NP_001293102.1:n.1213-21T>A