Canonical Allele Identifier: CA2665685653
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026680-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026680A>G , CM000665.2:g.49026680A>G GRCh38
NC_000003.11:g.49064113A>G , CM000665.1:g.49064113A>G GRCh37
NC_000003.10:g.49039117A>G NCBI36
NG_012091.1:g.7763T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2859+7T>C ENSP00000515567.1:n.2859+7T>C
ENST00000703937.1:c.*1920+7T>C ENSP00000515568.1:n.*1920+7T>C
ENST00000326739.9:c.819+7T>C MANE Select ENSP00000321584.4:n.819+7T>C
ENST00000429182.6:c.819+7T>C ENSP00000393525.2:n.819+7T>C
ENST00000442157.2:c.744+7T>C ENSP00000403502.2:n.744+7T>C
ENST00000462980.2:n.1334+7T>C
ENST00000472328.2:n.885+7T>C
ENST00000491610.2:n.779+7T>C
ENST00000676607.1:n.1115+7T>C
ENST00000676627.1:n.1549+7T>C
ENST00000676708.1:n.2099+7T>C
ENST00000676864.1:n.1968+7T>C
ENST00000677010.1:c.855+7T>C ENSP00000503089.1:n.855+7T>C
ENST00000677108.1:n.2732T>C
ENST00000677168.1:n.1291+7T>C
ENST00000677185.1:n.1382+7T>C
ENST00000677205.1:n.1603+7T>C
ENST00000677344.1:n.2093+7T>C
ENST00000677480.1:c.*496+7T>C ENSP00000504378.1:n.*496+7T>C
ENST00000677519.1:n.1529+7T>C
ENST00000677593.1:n.1375+7T>C
ENST00000677740.1:n.2324+7T>C
ENST00000677991.1:n.1992+7T>C
ENST00000678001.1:n.1312+7T>C
ENST00000678085.1:n.1382T>C
ENST00000678177.1:n.2675T>C
ENST00000678603.1:n.1897+7T>C
ENST00000678724.1:c.744+7T>C ENSP00000503874.1:n.744+7T>C
ENST00000678920.1:n.977+7T>C
ENST00000679019.1:n.1596T>C
ENST00000679117.1:c.*634+7T>C ENSP00000503240.1:n.*634+7T>C
ENST00000679339.1:n.1660+7T>C
ENST00000326739.8:c.819+7T>C ENSP00000321584.4:n.819+7T>C
ENST00000429182.5:c.613+7T>C
ENST00000442157.1:c.744+7T>C ENSP00000403502.1:n.744+7T>C
ENST00000462980.1:n.721+7T>C
ENST00000491610.1:n.779+7T>C
NM_000884.2:c.819+7T>C NP_000875.2:n.819+7T>C
XM_006713128.2:c.1029+7T>C XP_006713191.1:n.1029+7T>C
XM_006713128.3:c.1029+7T>C XP_006713191.1:n.1029+7T>C
XM_017006349.1:c.954+7T>C XP_016861838.1:n.954+7T>C
XM_017006350.1:c.954+7T>C XP_016861839.1:n.954+7T>C
NM_000884.3:c.819+7T>C MANE Select NP_000875.2:n.819+7T>C