Canonical Allele Identifier: CA810100471

Gene: AGXT2

Linked Data

• dbSNP Id: rs1198536081
• gnomAD v4: 5-34998814-CA-C
• MyVariant Identifiers: chr5:g.34998920del (hg19) ; chr5:g.34998815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998816del , CM000667.2:g.34998816del	GRCh38
NC_000005.9:g.34998921del , CM000667.1:g.34998921del	GRCh37
NC_000005.8:g.35034678del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1449del MANE Select	ENSP00000231420.6:p.Ile483MetfsTer16
ENST00000231420.10:c.1449del	ENSP00000231420.6:p.Ile483MetfsTer16
ENST00000510428.1:c.1224del	ENSP00000422799.1:p.Ile408MetfsTer16
ENST00000512135.5:n.1119del
ENST00000618015.4:c.1224del	ENSP00000479154.1:p.Ile408MetfsTer16
NM_001306173.1:c.1224del	NP_001293102.1:p.Ile408MetfsTer16
NM_031900.3:c.1449del	NP_114106.1:p.Ile483MetfsTer16
XM_005248337.2:c.1446del	XP_005248394.1:p.Ile482MetfsTer16
XM_005248338.2:c.1254del	XP_005248395.1:p.Ile418MetfsTer16
XM_011514077.1:c.1438-413del	XP_011512379.1:n.1438-413del
XM_005248337.3:c.1446del	XP_005248394.1:p.Ile482MetfsTer16
XM_005248338.3:c.1254del	XP_005248395.1:p.Ile418MetfsTer16
XM_017009748.2:c.1224del	XP_016865237.1:p.Ile408MetfsTer16
NM_031900.4:c.1449del MANE Select	NP_114106.1:p.Ile483MetfsTer16
NM_001306173.2:c.1224del	NP_001293102.1:p.Ile408MetfsTer16