Canonical Allele Identifier: CA1363291572
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs2093200565

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026579del , CM000665.2:g.49026579del GRCh38
NC_000003.11:g.49064012del , CM000665.1:g.49064012del GRCh37
NC_000003.10:g.49039016del NCBI36
NG_012091.1:g.7864del

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2890del ENSP00000515567.1:p.Ile964SerfsTer3
ENST00000703937.1:c.*1951del ENSP00000515568.1:n.*1951del
ENST00000326739.9:c.850del MANE Select ENSP00000321584.4:p.Ile284SerfsTer3
ENST00000429182.6:c.850del ENSP00000393525.2:p.Ile284SerfsTer3
ENST00000442157.2:c.775del ENSP00000403502.2:p.Ile259SerfsTer3
ENST00000462980.2:n.1365del
ENST00000472328.2:n.916del
ENST00000491610.2:n.810del
ENST00000676607.1:n.1146del
ENST00000676627.1:n.1580del
ENST00000676708.1:n.2130del
ENST00000676864.1:n.1999del
ENST00000677010.1:c.874del ENSP00000503089.1:p.Ile292SerfsTer3
ENST00000677108.1:n.2833del
ENST00000677168.1:n.1322del
ENST00000677185.1:n.1413del
ENST00000677205.1:n.1634del
ENST00000677344.1:n.2124del
ENST00000677480.1:c.*527del ENSP00000504378.1:n.*527del
ENST00000677519.1:n.1560del
ENST00000677593.1:n.1406del
ENST00000677740.1:n.2355del
ENST00000677991.1:n.2023del
ENST00000678001.1:n.1343del
ENST00000678085.1:n.1483del
ENST00000678177.1:n.2776del
ENST00000678603.1:n.1928del
ENST00000678724.1:c.775del ENSP00000503874.1:p.Ile259SerfsTer3
ENST00000678920.1:n.1008del
ENST00000679019.1:n.1697del
ENST00000679117.1:c.*665del ENSP00000503240.1:n.*665del
ENST00000679339.1:n.1691del
ENST00000326739.8:c.850del ENSP00000321584.4:p.Ile284SerfsTer3
ENST00000429182.5:c.644del
ENST00000442157.1:c.775del ENSP00000403502.1:p.Ile259SerfsTer3
ENST00000462980.1:n.752del
ENST00000491610.1:n.810del
NM_000884.2:c.850del NP_000875.2:p.Ile284SerfsTer3
XM_006713128.2:c.1060del XP_006713191.1:p.Ile354SerfsTer3
XM_006713128.3:c.1060del XP_006713191.1:p.Ile354SerfsTer3
XM_017006349.1:c.985del XP_016861838.1:p.Ile329SerfsTer3
XM_017006350.1:c.985del XP_016861839.1:p.Ile329SerfsTer3
NM_000884.3:c.850del MANE Select NP_000875.2:p.Ile284SerfsTer3