Canonical Allele Identifier: CA74018793
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1002423663
gnomAD v3: 3-49026858-A-T
gnomAD v4: 3-49026858-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026858A>T , CM000665.2:g.49026858A>T GRCh38
NC_000003.11:g.49064291A>T , CM000665.1:g.49064291A>T GRCh37
NC_000003.10:g.49039295A>T NCBI36
NG_012091.1:g.7585T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2688T>A ENSP00000515567.1:p.Asp896Glu
ENST00000703937.1:c.*1749T>A ENSP00000515568.1:n.*1749T>A
ENST00000326739.9:c.648T>A MANE Select ENSP00000321584.4:p.Asp216Glu
ENST00000429182.6:c.648T>A ENSP00000393525.2:p.Asp216Glu
ENST00000442157.2:c.573T>A ENSP00000403502.2:p.Asp191Glu
ENST00000462980.2:n.1163T>A
ENST00000472328.2:n.714T>A
ENST00000491610.2:n.608T>A
ENST00000676607.1:n.944T>A
ENST00000676627.1:n.1378T>A
ENST00000676708.1:n.1928T>A
ENST00000676864.1:n.1797T>A
ENST00000677010.1:c.684T>A ENSP00000503089.1:p.Asp228Glu
ENST00000677108.1:n.2554T>A
ENST00000677168.1:n.1120T>A
ENST00000677185.1:n.1211T>A
ENST00000677205.1:n.1432T>A
ENST00000677344.1:n.1922T>A
ENST00000677480.1:c.*325T>A ENSP00000504378.1:n.*325T>A
ENST00000677519.1:n.1358T>A
ENST00000677593.1:n.1204T>A
ENST00000677740.1:n.2153T>A
ENST00000677991.1:n.1821T>A
ENST00000678001.1:n.1141T>A
ENST00000678085.1:n.1204T>A
ENST00000678177.1:n.2497T>A
ENST00000678603.1:n.1726T>A
ENST00000678724.1:c.573T>A ENSP00000503874.1:p.Asp191Glu
ENST00000678920.1:n.806T>A
ENST00000679019.1:n.1418T>A
ENST00000679117.1:c.*463T>A ENSP00000503240.1:n.*463T>A
ENST00000679339.1:n.1489T>A
ENST00000326739.8:c.648T>A ENSP00000321584.4:p.Asp216Glu
ENST00000429182.5:c.442T>A
ENST00000442157.1:c.573T>A ENSP00000403502.1:p.Asp191Glu
ENST00000462980.1:n.550T>A
ENST00000491610.1:n.608T>A
NM_000884.2:c.648T>A NP_000875.2:p.Asp216Glu
XM_006713128.2:c.858T>A XP_006713191.1:p.Asp286Glu
XM_006713128.3:c.858T>A XP_006713191.1:p.Asp286Glu
XM_017006349.1:c.783T>A XP_016861838.1:p.Asp261Glu
XM_017006350.1:c.783T>A XP_016861839.1:p.Asp261Glu
NM_000884.3:c.648T>A MANE Select NP_000875.2:p.Asp216Glu