Canonical Allele Identifier: CA359403537

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766118801
• gnomAD v3: 5-34998735-T-C
• gnomAD v4: 5-34998735-T-C
• MyVariant Identifiers: chr5:g.34998840T>C (hg19) ; chr5:g.34998735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998735T>C , CM000667.2:g.34998735T>C	GRCh38
NC_000005.9:g.34998840T>C , CM000667.1:g.34998840T>C	GRCh37
NC_000005.8:g.35034597T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1529A>G MANE Select	ENSP00000231420.6:p.Glu510Gly
ENST00000231420.10:c.1529A>G	ENSP00000231420.6:p.Glu510Gly
ENST00000510428.1:c.1304A>G	ENSP00000422799.1:p.Glu435Gly
ENST00000512135.5:n.1199A>G
ENST00000618015.4:c.1304A>G	ENSP00000479154.1:p.Glu435Gly
NM_001306173.1:c.1304A>G	NP_001293102.1:p.Glu435Gly
NM_031900.3:c.1529A>G	NP_114106.1:p.Glu510Gly
XM_005248337.2:c.1526A>G	XP_005248394.1:p.Glu509Gly
XM_005248338.2:c.1334A>G	XP_005248395.1:p.Glu445Gly
XM_011514077.1:c.1438-333A>G	XP_011512379.1:n.1438-333A>G
XM_005248337.3:c.1526A>G	XP_005248394.1:p.Glu509Gly
XM_005248338.3:c.1334A>G	XP_005248395.1:p.Glu445Gly
XM_017009748.2:c.1304A>G	XP_016865237.1:p.Glu435Gly
NM_031900.4:c.1529A>G MANE Select	NP_114106.1:p.Glu510Gly
NM_001306173.2:c.1304A>G	NP_001293102.1:p.Glu435Gly