Canonical Allele Identifier: CA3229361

Gene: AGXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35037010C>T , CM000667.2:g.35037010C>T	GRCh38
NC_000005.9:g.35037115C>T , CM000667.1:g.35037115C>T	GRCh37
NC_000005.8:g.35072872C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_031900.4:c.418G>A MANE Select	NP_114106.1:p.Val140Ile
ENST00000231420.11:c.418G>A MANE Select	ENSP00000231420.6:p.Val140Ile
NM_001306173.1:c.418G>A	NP_001293102.1:p.Val140Ile
NM_001306173.2:c.418G>A	NP_001293102.1:p.Val140Ile
NM_031900.3:c.418G>A	NP_114106.1:p.Val140Ile
ENST00000231420.10:c.418G>A	ENSP00000231420.6:p.Val140Ile
ENST00000505542.1:n.327G>A
ENST00000510428.1:c.418G>A	ENSP00000422799.1:p.Val140Ile
ENST00000618015.4:c.418G>A	ENSP00000479154.1:p.Val140Ile
XM_005248337.2:c.415G>A	XP_005248394.1:p.Val139Ile
XM_005248337.3:c.415G>A	XP_005248394.1:p.Val139Ile
XM_005248338.2:c.418G>A	XP_005248395.1:p.Val140Ile
XM_005248338.3:c.418G>A	XP_005248395.1:p.Val140Ile
XM_011514077.1:c.418G>A	XP_011512379.1:p.Val140Ile
XM_017009748.2:c.418G>A	XP_016865237.1:p.Val140Ile