Canonical Allele Identifier: CA359403783

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998766-C-A
• MyVariant Identifiers: chr5:g.34998871C>A (hg19) ; chr5:g.34998766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998766C>A , CM000667.2:g.34998766C>A	GRCh38
NC_000005.9:g.34998871C>A , CM000667.1:g.34998871C>A	GRCh37
NC_000005.8:g.35034628C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1498G>T MANE Select	ENSP00000231420.6:p.Val500Leu
ENST00000231420.10:c.1498G>T	ENSP00000231420.6:p.Val500Leu
ENST00000510428.1:c.1273G>T	ENSP00000422799.1:p.Val425Leu
ENST00000512135.5:n.1168G>T
ENST00000618015.4:c.1273G>T	ENSP00000479154.1:p.Val425Leu
NM_001306173.1:c.1273G>T	NP_001293102.1:p.Val425Leu
NM_031900.3:c.1498G>T	NP_114106.1:p.Val500Leu
XM_005248337.2:c.1495G>T	XP_005248394.1:p.Val499Leu
XM_005248338.2:c.1303G>T	XP_005248395.1:p.Val435Leu
XM_011514077.1:c.1438-364G>T	XP_011512379.1:n.1438-364G>T
XM_005248337.3:c.1495G>T	XP_005248394.1:p.Val499Leu
XM_005248338.3:c.1303G>T	XP_005248395.1:p.Val435Leu
XM_017009748.2:c.1273G>T	XP_016865237.1:p.Val425Leu
NM_031900.4:c.1498G>T MANE Select	NP_114106.1:p.Val500Leu
NM_001306173.2:c.1273G>T	NP_001293102.1:p.Val425Leu