Canonical Allele Identifier: CA2673511859

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998582-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998584dup , CM000667.2:g.34998584dup	GRCh38
NC_000005.9:g.34998689dup , CM000667.1:g.34998689dup	GRCh37
NC_000005.8:g.35034446dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.*136dup MANE Select	ENSP00000231420.6:n.*136dup
ENST00000231420.10:c.*136dup	ENSP00000231420.6:n.*136dup
ENST00000510428.1:c.*45+91dup	ENSP00000422799.1:n.*45+91dup
ENST00000512135.5:n.1351dup
ENST00000618015.4:c.*136dup	ENSP00000479154.1:n.*136dup
NM_001306173.1:c.*45+91dup	NP_001293102.1:n.*45+91dup
NM_031900.3:c.*136dup	NP_114106.1:n.*136dup
XM_005248337.2:c.*136dup	XP_005248394.1:n.*136dup
XM_005248338.2:c.*136dup	XP_005248395.1:n.*136dup
XM_011514077.1:c.1438-181dup	XP_011512379.1:n.1438-181dup
XM_005248337.3:c.*136dup	XP_005248394.1:n.*136dup
XM_005248338.3:c.*136dup	XP_005248395.1:n.*136dup
XM_017009748.2:c.*136dup	XP_016865237.1:n.*136dup
NM_031900.4:c.*136dup MANE Select	NP_114106.1:n.*136dup
NM_001306173.2:c.*45+91dup	NP_001293102.1:n.*45+91dup