Canonical Allele Identifier: CA2577592921
Gene: IMPDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026581_49026582del , CM000665.2:g.49026581_49026582del GRCh38
NC_000003.11:g.49064014_49064015del , CM000665.1:g.49064014_49064015del GRCh37
NC_000003.10:g.49039018_49039019del NCBI36
NG_012091.1:g.7861_7862del

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2887_2888del ENSP00000515567.1:p.Gln963AspfsTer13
ENST00000703937.1:c.*1948_*1949del ENSP00000515568.1:n.*1948_*1949del
ENST00000326739.9:c.847_848del MANE Select ENSP00000321584.4:p.Gln283AspfsTer13
ENST00000429182.6:c.847_848del ENSP00000393525.2:p.Gln283AspfsTer13
ENST00000442157.2:c.772_773del ENSP00000403502.2:p.Gln258AspfsTer13
ENST00000462980.2:n.1362_1363del
ENST00000472328.2:n.913_914del
ENST00000491610.2:n.807_808del
ENST00000676607.1:n.1143_1144del
ENST00000676627.1:n.1577_1578del
ENST00000676708.1:n.2127_2128del
ENST00000676864.1:n.1996_1997del
ENST00000677010.1:c.871_872del ENSP00000503089.1:p.Gln291AspfsTer13
ENST00000677108.1:n.2830_2831del
ENST00000677168.1:n.1319_1320del
ENST00000677185.1:n.1410_1411del
ENST00000677205.1:n.1631_1632del
ENST00000677344.1:n.2121_2122del
ENST00000677480.1:c.*524_*525del ENSP00000504378.1:n.*524_*525del
ENST00000677519.1:n.1557_1558del
ENST00000677593.1:n.1403_1404del
ENST00000677740.1:n.2352_2353del
ENST00000677991.1:n.2020_2021del
ENST00000678001.1:n.1340_1341del
ENST00000678085.1:n.1480_1481del
ENST00000678177.1:n.2773_2774del
ENST00000678603.1:n.1925_1926del
ENST00000678724.1:c.772_773del ENSP00000503874.1:p.Gln258AspfsTer13
ENST00000678920.1:n.1005_1006del
ENST00000679019.1:n.1694_1695del
ENST00000679117.1:c.*662_*663del ENSP00000503240.1:n.*662_*663del
ENST00000679339.1:n.1688_1689del
ENST00000326739.8:c.847_848del ENSP00000321584.4:p.Gln283AspfsTer13
ENST00000429182.5:c.641_642del
ENST00000442157.1:c.772_773del ENSP00000403502.1:p.Gln258AspfsTer13
ENST00000462980.1:n.749_750del
ENST00000491610.1:n.807_808del
NM_000884.2:c.847_848del NP_000875.2:p.Gln283AspfsTer13
XM_006713128.2:c.1057_1058del XP_006713191.1:p.Gln353AspfsTer13
XM_006713128.3:c.1057_1058del XP_006713191.1:p.Gln353AspfsTer13
XM_017006349.1:c.982_983del XP_016861838.1:p.Gln328AspfsTer13
XM_017006350.1:c.982_983del XP_016861839.1:p.Gln328AspfsTer13
NM_000884.3:c.847_848del MANE Select NP_000875.2:p.Gln283AspfsTer13