Canonical Allele Identifier: CA543047629
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1167841314
gnomAD v2: 3-49064115-C-T
gnomAD v4: 3-49026682-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026682C>T , CM000665.2:g.49026682C>T GRCh38
NC_000003.11:g.49064115C>T , CM000665.1:g.49064115C>T GRCh37
NC_000003.10:g.49039119C>T NCBI36
NG_012091.1:g.7761G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2859+5G>A ENSP00000515567.1:n.2859+5G>A
ENST00000703937.1:c.*1920+5G>A ENSP00000515568.1:n.*1920+5G>A
ENST00000326739.9:c.819+5G>A MANE Select ENSP00000321584.4:n.819+5G>A
ENST00000429182.6:c.819+5G>A ENSP00000393525.2:n.819+5G>A
ENST00000442157.2:c.744+5G>A ENSP00000403502.2:n.744+5G>A
ENST00000462980.2:n.1334+5G>A
ENST00000472328.2:n.885+5G>A
ENST00000491610.2:n.779+5G>A
ENST00000676607.1:n.1115+5G>A
ENST00000676627.1:n.1549+5G>A
ENST00000676708.1:n.2099+5G>A
ENST00000676864.1:n.1968+5G>A
ENST00000677010.1:c.855+5G>A ENSP00000503089.1:n.855+5G>A
ENST00000677108.1:n.2730G>A
ENST00000677168.1:n.1291+5G>A
ENST00000677185.1:n.1382+5G>A
ENST00000677205.1:n.1603+5G>A
ENST00000677344.1:n.2093+5G>A
ENST00000677480.1:c.*496+5G>A ENSP00000504378.1:n.*496+5G>A
ENST00000677519.1:n.1529+5G>A
ENST00000677593.1:n.1375+5G>A
ENST00000677740.1:n.2324+5G>A
ENST00000677991.1:n.1992+5G>A
ENST00000678001.1:n.1312+5G>A
ENST00000678085.1:n.1380G>A
ENST00000678177.1:n.2673G>A
ENST00000678603.1:n.1897+5G>A
ENST00000678724.1:c.744+5G>A ENSP00000503874.1:n.744+5G>A
ENST00000678920.1:n.977+5G>A
ENST00000679019.1:n.1594G>A
ENST00000679117.1:c.*634+5G>A ENSP00000503240.1:n.*634+5G>A
ENST00000679339.1:n.1660+5G>A
ENST00000326739.8:c.819+5G>A ENSP00000321584.4:n.819+5G>A
ENST00000429182.5:c.613+5G>A
ENST00000442157.1:c.744+5G>A ENSP00000403502.1:n.744+5G>A
ENST00000462980.1:n.721+5G>A
ENST00000491610.1:n.779+5G>A
NM_000884.2:c.819+5G>A NP_000875.2:n.819+5G>A
XM_006713128.2:c.1029+5G>A XP_006713191.1:n.1029+5G>A
XM_006713128.3:c.1029+5G>A XP_006713191.1:n.1029+5G>A
XM_017006349.1:c.954+5G>A XP_016861838.1:n.954+5G>A
XM_017006350.1:c.954+5G>A XP_016861839.1:n.954+5G>A
NM_000884.3:c.819+5G>A MANE Select NP_000875.2:n.819+5G>A