Canonical Allele Identifier: CA558976716
Gene: AGXT2 HGNC NCBI

Linked Data

dbSNP Id: rs1391586896

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998709del , CM000667.2:g.34998709del GRCh38
NC_000005.9:g.34998814del , CM000667.1:g.34998814del GRCh37
NC_000005.8:g.35034571del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.*12del MANE Select ENSP00000231420.6:n.*12del
ENST00000231420.10:c.*12del ENSP00000231420.6:n.*12del
ENST00000510428.1:c.*12del ENSP00000422799.1:n.*12del
ENST00000512135.5:n.1227del
ENST00000618015.4:c.*12del ENSP00000479154.1:n.*12del
NM_001306173.1:c.*12del NP_001293102.1:n.*12del
NM_031900.3:c.*12del NP_114106.1:n.*12del
XM_005248337.2:c.*12del XP_005248394.1:n.*12del
XM_005248338.2:c.*12del XP_005248395.1:n.*12del
XM_011514077.1:c.1438-305del XP_011512379.1:n.1438-305del
XM_005248337.3:c.*12del XP_005248394.1:n.*12del
XM_005248338.3:c.*12del XP_005248395.1:n.*12del
XM_017009748.2:c.*12del XP_016865237.1:n.*12del
NM_031900.4:c.*12del MANE Select NP_114106.1:n.*12del
NM_001306173.2:c.*12del NP_001293102.1:n.*12del