Canonical Allele Identifier: CA3228917

Gene: AGXT2

Linked Data

• dbSNP Id: rs753925938
• ExAC: 5:34998854 T / A
• gnomAD v2: 5-34998854-T-A
• gnomAD v3: 5-34998749-T-A
• gnomAD v4: 5-34998749-T-A
• MyVariant Identifiers: chr5:g.34998854T>A (hg19) ; chr5:g.34998749T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998749T>A , CM000667.2:g.34998749T>A	GRCh38
NC_000005.9:g.34998854T>A , CM000667.1:g.34998854T>A	GRCh37
NC_000005.8:g.35034611T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1515A>T MANE Select	ENSP00000231420.6:p.Leu505Phe
ENST00000231420.10:c.1515A>T	ENSP00000231420.6:p.Leu505Phe
ENST00000510428.1:c.1290A>T	ENSP00000422799.1:p.Leu430Phe
ENST00000512135.5:n.1185A>T
ENST00000618015.4:c.1290A>T	ENSP00000479154.1:p.Leu430Phe
NM_001306173.1:c.1290A>T	NP_001293102.1:p.Leu430Phe
NM_031900.3:c.1515A>T	NP_114106.1:p.Leu505Phe
XM_005248337.2:c.1512A>T	XP_005248394.1:p.Leu504Phe
XM_005248338.2:c.1320A>T	XP_005248395.1:p.Leu440Phe
XM_011514077.1:c.1438-347A>T	XP_011512379.1:n.1438-347A>T
XM_005248337.3:c.1512A>T	XP_005248394.1:p.Leu504Phe
XM_005248338.3:c.1320A>T	XP_005248395.1:p.Leu440Phe
XM_017009748.2:c.1290A>T	XP_016865237.1:p.Leu430Phe
NM_031900.4:c.1515A>T MANE Select	NP_114106.1:p.Leu505Phe
NM_001306173.2:c.1290A>T	NP_001293102.1:p.Leu430Phe