Canonical Allele Identifier: CA359403740

Gene: AGXT2

Linked Data

• dbSNP Id: rs1240390538
• MyVariant Identifiers: chr5:g.34998864C>A (hg19) ; chr5:g.34998759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998759C>A , CM000667.2:g.34998759C>A	GRCh38
NC_000005.9:g.34998864C>A , CM000667.1:g.34998864C>A	GRCh37
NC_000005.8:g.35034621C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1505G>T MANE Select	ENSP00000231420.6:p.Arg502Leu
ENST00000231420.10:c.1505G>T	ENSP00000231420.6:p.Arg502Leu
ENST00000510428.1:c.1280G>T	ENSP00000422799.1:p.Arg427Leu
ENST00000512135.5:n.1175G>T
ENST00000618015.4:c.1280G>T	ENSP00000479154.1:p.Arg427Leu
NM_001306173.1:c.1280G>T	NP_001293102.1:p.Arg427Leu
NM_031900.3:c.1505G>T	NP_114106.1:p.Arg502Leu
XM_005248337.2:c.1502G>T	XP_005248394.1:p.Arg501Leu
XM_005248338.2:c.1310G>T	XP_005248395.1:p.Arg437Leu
XM_011514077.1:c.1438-357G>T	XP_011512379.1:n.1438-357G>T
XM_005248337.3:c.1502G>T	XP_005248394.1:p.Arg501Leu
XM_005248338.3:c.1310G>T	XP_005248395.1:p.Arg437Leu
XM_017009748.2:c.1280G>T	XP_016865237.1:p.Arg427Leu
NM_031900.4:c.1505G>T MANE Select	NP_114106.1:p.Arg502Leu
NM_001306173.2:c.1280G>T	NP_001293102.1:p.Arg427Leu