Canonical Allele Identifier: CA359403898

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998783-A-C
• MyVariant Identifiers: chr5:g.34998888A>C (hg19) ; chr5:g.34998783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998783A>C , CM000667.2:g.34998783A>C	GRCh38
NC_000005.9:g.34998888A>C , CM000667.1:g.34998888A>C	GRCh37
NC_000005.8:g.35034645A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.1481T>G MANE Select	ENSP00000231420.6:p.Val494Gly
ENST00000231420.10:c.1481T>G	ENSP00000231420.6:p.Val494Gly
ENST00000510428.1:c.1256T>G	ENSP00000422799.1:p.Val419Gly
ENST00000512135.5:n.1151T>G
ENST00000618015.4:c.1256T>G	ENSP00000479154.1:p.Val419Gly
NM_001306173.1:c.1256T>G	NP_001293102.1:p.Val419Gly
NM_031900.3:c.1481T>G	NP_114106.1:p.Val494Gly
XM_005248337.2:c.1478T>G	XP_005248394.1:p.Val493Gly
XM_005248338.2:c.1286T>G	XP_005248395.1:p.Val429Gly
XM_011514077.1:c.1438-381T>G	XP_011512379.1:n.1438-381T>G
XM_005248337.3:c.1478T>G	XP_005248394.1:p.Val493Gly
XM_005248338.3:c.1286T>G	XP_005248395.1:p.Val429Gly
XM_017009748.2:c.1256T>G	XP_016865237.1:p.Val419Gly
NM_031900.4:c.1481T>G MANE Select	NP_114106.1:p.Val494Gly
NM_001306173.2:c.1256T>G	NP_001293102.1:p.Val419Gly