Canonical Allele Identifier: CA3228918

Gene: AGXT2

Linked Data

• ClinVar Variation Id: 2394426
• ClinVar RCV Id: RCV004226013
• dbSNP Id: rs200627716
• ExAC: 5:34998865 G / A
• gnomAD v2: 5-34998865-G-A
• gnomAD v3: 5-34998760-G-A
• gnomAD v4: 5-34998760-G-A
• COSMIC: COSM1067469
• MyVariant Identifiers: chr5:g.34998865G>A (hg19) ; chr5:g.34998760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998760G>A , CM000667.2:g.34998760G>A	GRCh38
NC_000005.9:g.34998865G>A , CM000667.1:g.34998865G>A	GRCh37
NC_000005.8:g.35034622G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1504C>T MANE Select	ENSP00000231420.6:p.Arg502Cys
ENST00000231420.10:c.1504C>T	ENSP00000231420.6:p.Arg502Cys
ENST00000510428.1:c.1279C>T	ENSP00000422799.1:p.Arg427Cys
ENST00000512135.5:n.1174C>T
ENST00000618015.4:c.1279C>T	ENSP00000479154.1:p.Arg427Cys
NM_001306173.1:c.1279C>T	NP_001293102.1:p.Arg427Cys
NM_031900.3:c.1504C>T	NP_114106.1:p.Arg502Cys
XM_005248337.2:c.1501C>T	XP_005248394.1:p.Arg501Cys
XM_005248338.2:c.1309C>T	XP_005248395.1:p.Arg437Cys
XM_011514077.1:c.1438-358C>T	XP_011512379.1:n.1438-358C>T
XM_005248337.3:c.1501C>T	XP_005248394.1:p.Arg501Cys
XM_005248338.3:c.1309C>T	XP_005248395.1:p.Arg437Cys
XM_017009748.2:c.1279C>T	XP_016865237.1:p.Arg427Cys
NM_031900.4:c.1504C>T MANE Select	NP_114106.1:p.Arg502Cys
NM_001306173.2:c.1279C>T	NP_001293102.1:p.Arg427Cys