Canonical Allele Identifier: CA1074968788

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766117757
• gnomAD v3: 5-34998711-T-C
• gnomAD v4: 5-34998711-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998711T>C , CM000667.2:g.34998711T>C	GRCh38
NC_000005.9:g.34998816T>C , CM000667.1:g.34998816T>C	GRCh37
NC_000005.8:g.35034573T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.*8A>G MANE Select	ENSP00000231420.6:n.*8A>G
ENST00000231420.10:c.*8A>G	ENSP00000231420.6:n.*8A>G
ENST00000510428.1:c.*8A>G	ENSP00000422799.1:n.*8A>G
ENST00000512135.5:n.1223A>G
ENST00000618015.4:c.*8A>G	ENSP00000479154.1:n.*8A>G
NM_001306173.1:c.*8A>G	NP_001293102.1:n.*8A>G
NM_031900.3:c.*8A>G	NP_114106.1:n.*8A>G
XM_005248337.2:c.*8A>G	XP_005248394.1:n.*8A>G
XM_005248338.2:c.*8A>G	XP_005248395.1:n.*8A>G
XM_011514077.1:c.1438-309A>G	XP_011512379.1:n.1438-309A>G
XM_005248337.3:c.*8A>G	XP_005248394.1:n.*8A>G
XM_005248338.3:c.*8A>G	XP_005248395.1:n.*8A>G
XM_017009748.2:c.*8A>G	XP_016865237.1:n.*8A>G
NM_031900.4:c.*8A>G MANE Select	NP_114106.1:n.*8A>G
NM_001306173.2:c.*8A>G	NP_001293102.1:n.*8A>G