Canonical Allele Identifier: CA359404200

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998822-A-G
• MyVariant Identifiers: chr5:g.34998927A>G (hg19) ; chr5:g.34998822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998822A>G , CM000667.2:g.34998822A>G	GRCh38
NC_000005.9:g.34998927A>G , CM000667.1:g.34998927A>G	GRCh37
NC_000005.8:g.35034684A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1442T>C MANE Select	ENSP00000231420.6:p.Phe481Ser
ENST00000231420.10:c.1442T>C	ENSP00000231420.6:p.Phe481Ser
ENST00000510428.1:c.1217T>C	ENSP00000422799.1:p.Phe406Ser
ENST00000512135.5:n.1112T>C
ENST00000618015.4:c.1217T>C	ENSP00000479154.1:p.Phe406Ser
NM_001306173.1:c.1217T>C	NP_001293102.1:p.Phe406Ser
NM_031900.3:c.1442T>C	NP_114106.1:p.Phe481Ser
XM_005248337.2:c.1439T>C	XP_005248394.1:p.Phe480Ser
XM_005248338.2:c.1247T>C	XP_005248395.1:p.Phe416Ser
XM_011514077.1:c.1438-420T>C	XP_011512379.1:n.1438-420T>C
XM_005248337.3:c.1439T>C	XP_005248394.1:p.Phe480Ser
XM_005248338.3:c.1247T>C	XP_005248395.1:p.Phe416Ser
XM_017009748.2:c.1217T>C	XP_016865237.1:p.Phe406Ser
NM_031900.4:c.1442T>C MANE Select	NP_114106.1:p.Phe481Ser
NM_001306173.2:c.1217T>C	NP_001293102.1:p.Phe406Ser