Canonical Allele Identifier: CA558976628

Gene: AGXT2

Linked Data

• dbSNP Id: rs1158448672
• gnomAD v2: 5-34998789-C-CT
• gnomAD v3: 5-34998684-C-CT
• gnomAD v4: 5-34998684-C-CT
• MyVariant Identifiers: chr5:g.34998789_34998790insT (hg19) ; chr5:g.34998684_34998685insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998686dup , CM000667.2:g.34998686dup	GRCh38
NC_000005.9:g.34998791dup , CM000667.1:g.34998791dup	GRCh37
NC_000005.8:g.35034548dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.*34dup MANE Select	ENSP00000231420.6:n.*34dup
ENST00000231420.10:c.*34dup	ENSP00000231420.6:n.*34dup
ENST00000510428.1:c.*34dup	ENSP00000422799.1:n.*34dup
ENST00000512135.5:n.1249dup
ENST00000618015.4:c.*34dup	ENSP00000479154.1:n.*34dup
NM_001306173.1:c.*34dup	NP_001293102.1:n.*34dup
NM_031900.3:c.*34dup	NP_114106.1:n.*34dup
XM_005248337.2:c.*34dup	XP_005248394.1:n.*34dup
XM_005248338.2:c.*34dup	XP_005248395.1:n.*34dup
XM_011514077.1:c.1438-283dup	XP_011512379.1:n.1438-283dup
XM_005248337.3:c.*34dup	XP_005248394.1:n.*34dup
XM_005248338.3:c.*34dup	XP_005248395.1:n.*34dup
XM_017009748.2:c.*34dup	XP_016865237.1:n.*34dup
NM_031900.4:c.*34dup MANE Select	NP_114106.1:n.*34dup
NM_001306173.2:c.*34dup	NP_001293102.1:n.*34dup