Canonical Allele Identifier: CA359403665

Gene: AGXT2

Linked Data

• dbSNP Id: rs2112150900
• gnomAD v3: 5-34998748-T-A
• gnomAD v4: 5-34998748-T-A
• MyVariant Identifiers: chr5:g.34998853T>A (hg19) ; chr5:g.34998748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998748T>A , CM000667.2:g.34998748T>A	GRCh38
NC_000005.9:g.34998853T>A , CM000667.1:g.34998853T>A	GRCh37
NC_000005.8:g.35034610T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1516A>T MANE Select	ENSP00000231420.6:p.Thr506Ser
ENST00000231420.10:c.1516A>T	ENSP00000231420.6:p.Thr506Ser
ENST00000510428.1:c.1291A>T	ENSP00000422799.1:p.Thr431Ser
ENST00000512135.5:n.1186A>T
ENST00000618015.4:c.1291A>T	ENSP00000479154.1:p.Thr431Ser
NM_001306173.1:c.1291A>T	NP_001293102.1:p.Thr431Ser
NM_031900.3:c.1516A>T	NP_114106.1:p.Thr506Ser
XM_005248337.2:c.1513A>T	XP_005248394.1:p.Thr505Ser
XM_005248338.2:c.1321A>T	XP_005248395.1:p.Thr441Ser
XM_011514077.1:c.1438-346A>T	XP_011512379.1:n.1438-346A>T
XM_005248337.3:c.1513A>T	XP_005248394.1:p.Thr505Ser
XM_005248338.3:c.1321A>T	XP_005248395.1:p.Thr441Ser
XM_017009748.2:c.1291A>T	XP_016865237.1:p.Thr431Ser
NM_031900.4:c.1516A>T MANE Select	NP_114106.1:p.Thr506Ser
NM_001306173.2:c.1291A>T	NP_001293102.1:p.Thr431Ser