Canonical Allele Identifier: CA116917215

Gene: AGXT2

Linked Data

• dbSNP Id: rs114952168
• gnomAD v2: 5-34998699-T-G
• gnomAD v3: 5-34998594-T-G
• gnomAD v4: 5-34998594-T-G
• MyVariant Identifiers: chr5:g.34998699T>G (hg19) ; chr5:g.34998594T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998594T>G , CM000667.2:g.34998594T>G	GRCh38
NC_000005.9:g.34998699T>G , CM000667.1:g.34998699T>G	GRCh37
NC_000005.8:g.35034456T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.*125A>C MANE Select	ENSP00000231420.6:n.*125A>C
ENST00000231420.10:c.*125A>C	ENSP00000231420.6:n.*125A>C
ENST00000510428.1:c.*45+80A>C	ENSP00000422799.1:n.*45+80A>C
ENST00000512135.5:n.1340A>C
ENST00000618015.4:c.*125A>C	ENSP00000479154.1:n.*125A>C
NM_001306173.1:c.*45+80A>C	NP_001293102.1:n.*45+80A>C
NM_031900.3:c.*125A>C	NP_114106.1:n.*125A>C
XM_005248337.2:c.*125A>C	XP_005248394.1:n.*125A>C
XM_005248338.2:c.*125A>C	XP_005248395.1:n.*125A>C
XM_011514077.1:c.1438-192A>C	XP_011512379.1:n.1438-192A>C
XM_005248337.3:c.*125A>C	XP_005248394.1:n.*125A>C
XM_005248338.3:c.*125A>C	XP_005248395.1:n.*125A>C
XM_017009748.2:c.*125A>C	XP_016865237.1:n.*125A>C
NM_031900.4:c.*125A>C MANE Select	NP_114106.1:n.*125A>C
NM_001306173.2:c.*45+80A>C	NP_001293102.1:n.*45+80A>C