Canonical Allele Identifier: CA2673511973

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998866-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998866G>T , CM000667.2:g.34998866G>T	GRCh38
NC_000005.9:g.34998971G>T , CM000667.1:g.34998971G>T	GRCh37
NC_000005.8:g.35034728G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-40C>A MANE Select	ENSP00000231420.6:n.1438-40C>A
ENST00000231420.10:c.1438-40C>A	ENSP00000231420.6:n.1438-40C>A
ENST00000510428.1:c.1213-40C>A	ENSP00000422799.1:n.1213-40C>A
ENST00000512135.5:n.1108-40C>A
ENST00000618015.4:c.1213-40C>A	ENSP00000479154.1:n.1213-40C>A
NM_001306173.1:c.1213-40C>A	NP_001293102.1:n.1213-40C>A
NM_031900.3:c.1438-40C>A	NP_114106.1:n.1438-40C>A
XM_005248337.2:c.1435-40C>A	XP_005248394.1:n.1435-40C>A
XM_005248338.2:c.1243-40C>A	XP_005248395.1:n.1243-40C>A
XM_011514077.1:c.1438-464C>A	XP_011512379.1:n.1438-464C>A
XM_005248337.3:c.1435-40C>A	XP_005248394.1:n.1435-40C>A
XM_005248338.3:c.1243-40C>A	XP_005248395.1:n.1243-40C>A
XM_017009748.2:c.1213-40C>A	XP_016865237.1:n.1213-40C>A
NM_031900.4:c.1438-40C>A MANE Select	NP_114106.1:n.1438-40C>A
NM_001306173.2:c.1213-40C>A	NP_001293102.1:n.1213-40C>A