Canonical Allele Identifier: CA359403612

Gene: AGXT2

Linked Data

• dbSNP Id: rs1452054685
• gnomAD v2: 5-34998847-G-A
• MyVariant Identifiers: chr5:g.34998847G>A (hg19) ; chr5:g.34998742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998742G>A , CM000667.2:g.34998742G>A	GRCh38
NC_000005.9:g.34998847G>A , CM000667.1:g.34998847G>A	GRCh37
NC_000005.8:g.35034604G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1522C>T MANE Select	ENSP00000231420.6:p.His508Tyr
ENST00000231420.10:c.1522C>T	ENSP00000231420.6:p.His508Tyr
ENST00000510428.1:c.1297C>T	ENSP00000422799.1:p.His433Tyr
ENST00000512135.5:n.1192C>T
ENST00000618015.4:c.1297C>T	ENSP00000479154.1:p.His433Tyr
NM_001306173.1:c.1297C>T	NP_001293102.1:p.His433Tyr
NM_031900.3:c.1522C>T	NP_114106.1:p.His508Tyr
XM_005248337.2:c.1519C>T	XP_005248394.1:p.His507Tyr
XM_005248338.2:c.1327C>T	XP_005248395.1:p.His443Tyr
XM_011514077.1:c.1438-340C>T	XP_011512379.1:n.1438-340C>T
XM_005248337.3:c.1519C>T	XP_005248394.1:p.His507Tyr
XM_005248338.3:c.1327C>T	XP_005248395.1:p.His443Tyr
XM_017009748.2:c.1297C>T	XP_016865237.1:p.His433Tyr
NM_031900.4:c.1522C>T MANE Select	NP_114106.1:p.His508Tyr
NM_001306173.2:c.1297C>T	NP_001293102.1:p.His433Tyr