Canonical Allele Identifier: CA359403944

Gene: AGXT2

Linked Data

• MyVariant Identifiers: chr5:g.34998892C>T (hg19) ; chr5:g.34998787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998787C>T , CM000667.2:g.34998787C>T	GRCh38
NC_000005.9:g.34998892C>T , CM000667.1:g.34998892C>T	GRCh37
NC_000005.8:g.35034649C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1477G>A MANE Select	ENSP00000231420.6:p.Glu493Lys
ENST00000231420.10:c.1477G>A	ENSP00000231420.6:p.Glu493Lys
ENST00000510428.1:c.1252G>A	ENSP00000422799.1:p.Glu418Lys
ENST00000512135.5:n.1147G>A
ENST00000618015.4:c.1252G>A	ENSP00000479154.1:p.Glu418Lys
NM_001306173.1:c.1252G>A	NP_001293102.1:p.Glu418Lys
NM_031900.3:c.1477G>A	NP_114106.1:p.Glu493Lys
XM_005248337.2:c.1474G>A	XP_005248394.1:p.Glu492Lys
XM_005248338.2:c.1282G>A	XP_005248395.1:p.Glu428Lys
XM_011514077.1:c.1438-385G>A	XP_011512379.1:n.1438-385G>A
XM_005248337.3:c.1474G>A	XP_005248394.1:p.Glu492Lys
XM_005248338.3:c.1282G>A	XP_005248395.1:p.Glu428Lys
XM_017009748.2:c.1252G>A	XP_016865237.1:p.Glu418Lys
NM_031900.4:c.1477G>A MANE Select	NP_114106.1:p.Glu493Lys
NM_001306173.2:c.1252G>A	NP_001293102.1:p.Glu418Lys