Canonical Allele Identifier: CA352741207
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026877-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026877G>T , CM000665.2:g.49026877G>T GRCh38
NC_000003.11:g.49064310G>T , CM000665.1:g.49064310G>T GRCh37
NC_000003.10:g.49039314G>T NCBI36
NG_012091.1:g.7566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2669C>A ENSP00000515567.1:p.Pro890His
ENST00000703937.1:c.*1730C>A ENSP00000515568.1:n.*1730C>A
ENST00000326739.9:c.629C>A MANE Select ENSP00000321584.4:p.Pro210His
ENST00000429182.6:c.629C>A ENSP00000393525.2:p.Pro210His
ENST00000442157.2:c.554C>A ENSP00000403502.2:p.Pro185His
ENST00000462980.2:n.1144C>A
ENST00000472328.2:n.695C>A
ENST00000491610.2:n.589C>A
ENST00000676607.1:n.925C>A
ENST00000676627.1:n.1359C>A
ENST00000676708.1:n.1909C>A
ENST00000676864.1:n.1778C>A
ENST00000677010.1:c.665C>A ENSP00000503089.1:p.Pro222His
ENST00000677108.1:n.2535C>A
ENST00000677168.1:n.1101C>A
ENST00000677185.1:n.1192C>A
ENST00000677205.1:n.1413C>A
ENST00000677344.1:n.1903C>A
ENST00000677480.1:c.*306C>A ENSP00000504378.1:n.*306C>A
ENST00000677519.1:n.1339C>A
ENST00000677593.1:n.1185C>A
ENST00000677740.1:n.2134C>A
ENST00000677991.1:n.1802C>A
ENST00000678001.1:n.1122C>A
ENST00000678085.1:n.1185C>A
ENST00000678177.1:n.2478C>A
ENST00000678603.1:n.1707C>A
ENST00000678724.1:c.554C>A ENSP00000503874.1:p.Pro185His
ENST00000678920.1:n.787C>A
ENST00000679019.1:n.1399C>A
ENST00000679117.1:c.*444C>A ENSP00000503240.1:n.*444C>A
ENST00000679339.1:n.1470C>A
ENST00000326739.8:c.629C>A ENSP00000321584.4:p.Pro210His
ENST00000429182.5:c.423C>A
ENST00000442157.1:c.554C>A ENSP00000403502.1:p.Pro185His
ENST00000462980.1:n.531C>A
ENST00000491610.1:n.589C>A
NM_000884.2:c.629C>A NP_000875.2:p.Pro210His
XM_006713128.2:c.839C>A XP_006713191.1:p.Pro280His
XM_006713128.3:c.839C>A XP_006713191.1:p.Pro280His
XM_017006349.1:c.764C>A XP_016861838.1:p.Pro255His
XM_017006350.1:c.764C>A XP_016861839.1:p.Pro255His
NM_000884.3:c.629C>A MANE Select NP_000875.2:p.Pro210His