Canonical Allele Identifier: CA352741043
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026864-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026864T>G , CM000665.2:g.49026864T>G GRCh38
NC_000003.11:g.49064297T>G , CM000665.1:g.49064297T>G GRCh37
NC_000003.10:g.49039301T>G NCBI36
NG_012091.1:g.7579A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2682A>C ENSP00000515567.1:p.Glu894Asp
ENST00000703937.1:c.*1743A>C ENSP00000515568.1:n.*1743A>C
ENST00000326739.9:c.642A>C MANE Select ENSP00000321584.4:p.Glu214Asp
ENST00000429182.6:c.642A>C ENSP00000393525.2:p.Glu214Asp
ENST00000442157.2:c.567A>C ENSP00000403502.2:p.Glu189Asp
ENST00000462980.2:n.1157A>C
ENST00000472328.2:n.708A>C
ENST00000491610.2:n.602A>C
ENST00000676607.1:n.938A>C
ENST00000676627.1:n.1372A>C
ENST00000676708.1:n.1922A>C
ENST00000676864.1:n.1791A>C
ENST00000677010.1:c.678A>C ENSP00000503089.1:p.Glu226Asp
ENST00000677108.1:n.2548A>C
ENST00000677168.1:n.1114A>C
ENST00000677185.1:n.1205A>C
ENST00000677205.1:n.1426A>C
ENST00000677344.1:n.1916A>C
ENST00000677480.1:c.*319A>C ENSP00000504378.1:n.*319A>C
ENST00000677519.1:n.1352A>C
ENST00000677593.1:n.1198A>C
ENST00000677740.1:n.2147A>C
ENST00000677991.1:n.1815A>C
ENST00000678001.1:n.1135A>C
ENST00000678085.1:n.1198A>C
ENST00000678177.1:n.2491A>C
ENST00000678603.1:n.1720A>C
ENST00000678724.1:c.567A>C ENSP00000503874.1:p.Glu189Asp
ENST00000678920.1:n.800A>C
ENST00000679019.1:n.1412A>C
ENST00000679117.1:c.*457A>C ENSP00000503240.1:n.*457A>C
ENST00000679339.1:n.1483A>C
ENST00000326739.8:c.642A>C ENSP00000321584.4:p.Glu214Asp
ENST00000429182.5:c.436A>C
ENST00000442157.1:c.567A>C ENSP00000403502.1:p.Glu189Asp
ENST00000462980.1:n.544A>C
ENST00000491610.1:n.602A>C
NM_000884.2:c.642A>C NP_000875.2:p.Glu214Asp
XM_006713128.2:c.852A>C XP_006713191.1:p.Glu284Asp
XM_006713128.3:c.852A>C XP_006713191.1:p.Glu284Asp
XM_017006349.1:c.777A>C XP_016861838.1:p.Glu259Asp
XM_017006350.1:c.777A>C XP_016861839.1:p.Glu259Asp
NM_000884.3:c.642A>C MANE Select NP_000875.2:p.Glu214Asp