Canonical Allele Identifier: CA359403464

Gene: AGXT2

Linked Data

• MyVariant Identifiers: chr5:g.34998829T>C (hg19) ; chr5:g.34998724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998724T>C , CM000667.2:g.34998724T>C	GRCh38
NC_000005.9:g.34998829T>C , CM000667.1:g.34998829T>C	GRCh37
NC_000005.8:g.35034586T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1540A>G MANE Select	ENSP00000231420.6:p.Lys514Glu
ENST00000231420.10:c.1540A>G	ENSP00000231420.6:p.Lys514Glu
ENST00000510428.1:c.1315A>G	ENSP00000422799.1:p.Lys439Glu
ENST00000512135.5:n.1210A>G
ENST00000618015.4:c.1315A>G	ENSP00000479154.1:p.Lys439Glu
NM_001306173.1:c.1315A>G	NP_001293102.1:p.Lys439Glu
NM_031900.3:c.1540A>G	NP_114106.1:p.Lys514Glu
XM_005248337.2:c.1537A>G	XP_005248394.1:p.Lys513Glu
XM_005248338.2:c.1345A>G	XP_005248395.1:p.Lys449Glu
XM_011514077.1:c.1438-322A>G	XP_011512379.1:n.1438-322A>G
XM_005248337.3:c.1537A>G	XP_005248394.1:p.Lys513Glu
XM_005248338.3:c.1345A>G	XP_005248395.1:p.Lys449Glu
XM_017009748.2:c.1315A>G	XP_016865237.1:p.Lys439Glu
NM_031900.4:c.1540A>G MANE Select	NP_114106.1:p.Lys514Glu
NM_001306173.2:c.1315A>G	NP_001293102.1:p.Lys439Glu