Canonical Allele Identifier: CA1538676496

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766114039
• gnomAD v4: 5-34998609-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998609A>C , CM000667.2:g.34998609A>C	GRCh38
NC_000005.9:g.34998714A>C , CM000667.1:g.34998714A>C	GRCh37
NC_000005.8:g.35034471A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.*110T>G MANE Select	ENSP00000231420.6:n.*110T>G
ENST00000231420.10:c.*110T>G	ENSP00000231420.6:n.*110T>G
ENST00000510428.1:c.*45+65T>G	ENSP00000422799.1:n.*45+65T>G
ENST00000512135.5:n.1325T>G
ENST00000618015.4:c.*110T>G	ENSP00000479154.1:n.*110T>G
NM_001306173.1:c.*45+65T>G	NP_001293102.1:n.*45+65T>G
NM_031900.3:c.*110T>G	NP_114106.1:n.*110T>G
XM_005248337.2:c.*110T>G	XP_005248394.1:n.*110T>G
XM_005248338.2:c.*110T>G	XP_005248395.1:n.*110T>G
XM_011514077.1:c.1438-207T>G	XP_011512379.1:n.1438-207T>G
XM_005248337.3:c.*110T>G	XP_005248394.1:n.*110T>G
XM_005248338.3:c.*110T>G	XP_005248395.1:n.*110T>G
XM_017009748.2:c.*110T>G	XP_016865237.1:n.*110T>G
NM_031900.4:c.*110T>G MANE Select	NP_114106.1:n.*110T>G
NM_001306173.2:c.*45+65T>G	NP_001293102.1:n.*45+65T>G