Canonical Allele Identifier: CA1538676954
Gene: AGXT2 HGNC NCBI

Linked Data

dbSNP Id: rs1766127323

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998914C>A , CM000667.2:g.34998914C>A GRCh38
NC_000005.9:g.34999019C>A , CM000667.1:g.34999019C>A GRCh37
NC_000005.8:g.35034776C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1438-88G>T MANE Select ENSP00000231420.6:n.1438-88G>T
ENST00000231420.10:c.1438-88G>T ENSP00000231420.6:n.1438-88G>T
ENST00000510428.1:c.1213-88G>T ENSP00000422799.1:n.1213-88G>T
ENST00000512135.5:n.1108-88G>T
ENST00000618015.4:c.1213-88G>T ENSP00000479154.1:n.1213-88G>T
NM_001306173.1:c.1213-88G>T NP_001293102.1:n.1213-88G>T
NM_031900.3:c.1438-88G>T NP_114106.1:n.1438-88G>T
XM_005248337.2:c.1435-88G>T XP_005248394.1:n.1435-88G>T
XM_005248338.2:c.1243-88G>T XP_005248395.1:n.1243-88G>T
XM_011514077.1:c.1438-512G>T XP_011512379.1:n.1438-512G>T
XM_005248337.3:c.1435-88G>T XP_005248394.1:n.1435-88G>T
XM_005248338.3:c.1243-88G>T XP_005248395.1:n.1243-88G>T
XM_017009748.2:c.1213-88G>T XP_016865237.1:n.1213-88G>T
NM_031900.4:c.1438-88G>T MANE Select NP_114106.1:n.1438-88G>T
NM_001306173.2:c.1213-88G>T NP_001293102.1:n.1213-88G>T