Canonical Allele Identifier: CA917450273

Gene: AGXT2

Linked Data

• dbSNP Id: rs1561207522

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998788del , CM000667.2:g.34998788del	GRCh38
NC_000005.9:g.34998893del , CM000667.1:g.34998893del	GRCh37
NC_000005.8:g.35034650del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1476del MANE Select	ENSP00000231420.6:p.Glu493LysfsTer6
ENST00000231420.10:c.1476del	ENSP00000231420.6:p.Glu493LysfsTer6
ENST00000510428.1:c.1251del	ENSP00000422799.1:p.Glu418LysfsTer6
ENST00000512135.5:n.1146del
ENST00000618015.4:c.1251del	ENSP00000479154.1:p.Glu418LysfsTer6
NM_001306173.1:c.1251del	NP_001293102.1:p.Glu418LysfsTer6
NM_031900.3:c.1476del	NP_114106.1:p.Glu493LysfsTer6
XM_005248337.2:c.1473del	XP_005248394.1:p.Glu492LysfsTer6
XM_005248338.2:c.1281del	XP_005248395.1:p.Glu428LysfsTer6
XM_011514077.1:c.1438-386del	XP_011512379.1:n.1438-386del
XM_005248337.3:c.1473del	XP_005248394.1:p.Glu492LysfsTer6
XM_005248338.3:c.1281del	XP_005248395.1:p.Glu428LysfsTer6
XM_017009748.2:c.1251del	XP_016865237.1:p.Glu418LysfsTer6
NM_031900.4:c.1476del MANE Select	NP_114106.1:p.Glu493LysfsTer6
NM_001306173.2:c.1251del	NP_001293102.1:p.Glu418LysfsTer6