Canonical Allele Identifier: CA3228923

Gene: AGXT2

Linked Data

• dbSNP Id: rs746662655
• ExAC: 5:34998900 G / C
• gnomAD v2: 5-34998900-G-C
• gnomAD v3: 5-34998795-G-C
• gnomAD v4: 5-34998795-G-C
• MyVariant Identifiers: chr5:g.34998900G>C (hg19) ; chr5:g.34998795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998795G>C , CM000667.2:g.34998795G>C	GRCh38
NC_000005.9:g.34998900G>C , CM000667.1:g.34998900G>C	GRCh37
NC_000005.8:g.35034657G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1469C>G MANE Select	ENSP00000231420.6:p.Thr490Ser
ENST00000231420.10:c.1469C>G	ENSP00000231420.6:p.Thr490Ser
ENST00000510428.1:c.1244C>G	ENSP00000422799.1:p.Thr415Ser
ENST00000512135.5:n.1139C>G
ENST00000618015.4:c.1244C>G	ENSP00000479154.1:p.Thr415Ser
NM_001306173.1:c.1244C>G	NP_001293102.1:p.Thr415Ser
NM_031900.3:c.1469C>G	NP_114106.1:p.Thr490Ser
XM_005248337.2:c.1466C>G	XP_005248394.1:p.Thr489Ser
XM_005248338.2:c.1274C>G	XP_005248395.1:p.Thr425Ser
XM_011514077.1:c.1438-393C>G	XP_011512379.1:n.1438-393C>G
XM_005248337.3:c.1466C>G	XP_005248394.1:p.Thr489Ser
XM_005248338.3:c.1274C>G	XP_005248395.1:p.Thr425Ser
XM_017009748.2:c.1244C>G	XP_016865237.1:p.Thr415Ser
NM_031900.4:c.1469C>G MANE Select	NP_114106.1:p.Thr490Ser
NM_001306173.2:c.1244C>G	NP_001293102.1:p.Thr415Ser