Canonical Allele Identifier: CA443882174

Gene: AGXT2

Linked Data

• dbSNP Id: rs1417663814
• gnomAD v2: 5-34998929-T-C
• gnomAD v4: 5-34998824-T-C
• MyVariant Identifiers: chr5:g.34998929T>C (hg19) ; chr5:g.34998824T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998824T>C , CM000667.2:g.34998824T>C	GRCh38
NC_000005.9:g.34998929T>C , CM000667.1:g.34998929T>C	GRCh37
NC_000005.8:g.35034686T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1440A>G MANE Select	ENSP00000231420.6:p.Thr480=
ENST00000231420.10:c.1440A>G	ENSP00000231420.6:p.Thr480=
ENST00000510428.1:c.1215A>G	ENSP00000422799.1:p.Thr405=
ENST00000512135.5:n.1110A>G
ENST00000618015.4:c.1215A>G	ENSP00000479154.1:p.Thr405=
NM_001306173.1:c.1215A>G	NP_001293102.1:p.Thr405=
NM_031900.3:c.1440A>G	NP_114106.1:p.Thr480=
XM_005248337.2:c.1437A>G	XP_005248394.1:p.Thr479=
XM_005248338.2:c.1245A>G	XP_005248395.1:p.Thr415=
XM_011514077.1:c.1438-422A>G	XP_011512379.1:n.1438-422A>G
XM_005248337.3:c.1437A>G	XP_005248394.1:p.Thr479=
XM_005248338.3:c.1245A>G	XP_005248395.1:p.Thr415=
XM_017009748.2:c.1215A>G	XP_016865237.1:p.Thr405=
NM_031900.4:c.1440A>G MANE Select	NP_114106.1:p.Thr480=
NM_001306173.2:c.1215A>G	NP_001293102.1:p.Thr405=