Canonical Allele Identifier: CA1074980498

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766113285
• gnomAD v3: 5-34998580-G-A
• gnomAD v4: 5-34998580-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998580G>A , CM000667.2:g.34998580G>A	GRCh38
NC_000005.9:g.34998685G>A , CM000667.1:g.34998685G>A	GRCh37
NC_000005.8:g.35034442G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.*139C>T MANE Select	ENSP00000231420.6:n.*139C>T
ENST00000231420.10:c.*139C>T	ENSP00000231420.6:n.*139C>T
ENST00000510428.1:c.*45+94C>T	ENSP00000422799.1:n.*45+94C>T
ENST00000512135.5:n.1354C>T
ENST00000618015.4:c.*139C>T	ENSP00000479154.1:n.*139C>T
NM_001306173.1:c.*45+94C>T	NP_001293102.1:n.*45+94C>T
NM_031900.3:c.*139C>T	NP_114106.1:n.*139C>T
XM_005248337.2:c.*139C>T	XP_005248394.1:n.*139C>T
XM_005248338.2:c.*139C>T	XP_005248395.1:n.*139C>T
XM_011514077.1:c.1438-178C>T	XP_011512379.1:n.1438-178C>T
XM_005248337.3:c.*139C>T	XP_005248394.1:n.*139C>T
XM_005248338.3:c.*139C>T	XP_005248395.1:n.*139C>T
XM_017009748.2:c.*139C>T	XP_016865237.1:n.*139C>T
NM_031900.4:c.*139C>T MANE Select	NP_114106.1:n.*139C>T
NM_001306173.2:c.*45+94C>T	NP_001293102.1:n.*45+94C>T