Canonical Allele Identifier: CA359403914

Gene: AGXT2

Linked Data

• MyVariant Identifiers: chr5:g.34998889C>G (hg19) ; chr5:g.34998784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998784C>G , CM000667.2:g.34998784C>G	GRCh38
NC_000005.9:g.34998889C>G , CM000667.1:g.34998889C>G	GRCh37
NC_000005.8:g.35034646C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.1480G>C MANE Select	ENSP00000231420.6:p.Val494Leu
ENST00000231420.10:c.1480G>C	ENSP00000231420.6:p.Val494Leu
ENST00000510428.1:c.1255G>C	ENSP00000422799.1:p.Val419Leu
ENST00000512135.5:n.1150G>C
ENST00000618015.4:c.1255G>C	ENSP00000479154.1:p.Val419Leu
NM_001306173.1:c.1255G>C	NP_001293102.1:p.Val419Leu
NM_031900.3:c.1480G>C	NP_114106.1:p.Val494Leu
XM_005248337.2:c.1477G>C	XP_005248394.1:p.Val493Leu
XM_005248338.2:c.1285G>C	XP_005248395.1:p.Val429Leu
XM_011514077.1:c.1438-382G>C	XP_011512379.1:n.1438-382G>C
XM_005248337.3:c.1477G>C	XP_005248394.1:p.Val493Leu
XM_005248338.3:c.1285G>C	XP_005248395.1:p.Val429Leu
XM_017009748.2:c.1255G>C	XP_016865237.1:p.Val419Leu
NM_031900.4:c.1480G>C MANE Select	NP_114106.1:p.Val494Leu
NM_001306173.2:c.1255G>C	NP_001293102.1:p.Val419Leu