Canonical Allele Identifier: CA359403796

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766121414
• MyVariant Identifiers: chr5:g.34998874C>A (hg19) ; chr5:g.34998769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998769C>A , CM000667.2:g.34998769C>A	GRCh38
NC_000005.9:g.34998874C>A , CM000667.1:g.34998874C>A	GRCh37
NC_000005.8:g.35034631C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1495G>T MANE Select	ENSP00000231420.6:p.Glu499Ter
ENST00000231420.10:c.1495G>T	ENSP00000231420.6:p.Glu499Ter
ENST00000510428.1:c.1270G>T	ENSP00000422799.1:p.Glu424Ter
ENST00000512135.5:n.1165G>T
ENST00000618015.4:c.1270G>T	ENSP00000479154.1:p.Glu424Ter
NM_001306173.1:c.1270G>T	NP_001293102.1:p.Glu424Ter
NM_031900.3:c.1495G>T	NP_114106.1:p.Glu499Ter
XM_005248337.2:c.1492G>T	XP_005248394.1:p.Glu498Ter
XM_005248338.2:c.1300G>T	XP_005248395.1:p.Glu434Ter
XM_011514077.1:c.1438-367G>T	XP_011512379.1:n.1438-367G>T
XM_005248337.3:c.1492G>T	XP_005248394.1:p.Glu498Ter
XM_005248338.3:c.1300G>T	XP_005248395.1:p.Glu434Ter
XM_017009748.2:c.1270G>T	XP_016865237.1:p.Glu424Ter
NM_031900.4:c.1495G>T MANE Select	NP_114106.1:p.Glu499Ter
NM_001306173.2:c.1270G>T	NP_001293102.1:p.Glu424Ter