Canonical Allele Identifier: CA352740005
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026727-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026727A>G , CM000665.2:g.49026727A>G GRCh38
NC_000003.11:g.49064160A>G , CM000665.1:g.49064160A>G GRCh37
NC_000003.10:g.49039164A>G NCBI36
NG_012091.1:g.7716T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2819T>C ENSP00000515567.1:p.Leu940Pro
ENST00000703937.1:c.*1880T>C ENSP00000515568.1:n.*1880T>C
ENST00000326739.9:c.779T>C MANE Select ENSP00000321584.4:p.Leu260Pro
ENST00000429182.6:c.779T>C ENSP00000393525.2:p.Leu260Pro
ENST00000442157.2:c.704T>C ENSP00000403502.2:p.Leu235Pro
ENST00000462980.2:n.1294T>C
ENST00000472328.2:n.845T>C
ENST00000491610.2:n.739T>C
ENST00000676607.1:n.1075T>C
ENST00000676627.1:n.1509T>C
ENST00000676708.1:n.2059T>C
ENST00000676864.1:n.1928T>C
ENST00000677010.1:c.815T>C ENSP00000503089.1:p.Leu272Pro
ENST00000677108.1:n.2685T>C
ENST00000677168.1:n.1251T>C
ENST00000677185.1:n.1342T>C
ENST00000677205.1:n.1563T>C
ENST00000677344.1:n.2053T>C
ENST00000677480.1:c.*456T>C ENSP00000504378.1:n.*456T>C
ENST00000677519.1:n.1489T>C
ENST00000677593.1:n.1335T>C
ENST00000677740.1:n.2284T>C
ENST00000677991.1:n.1952T>C
ENST00000678001.1:n.1272T>C
ENST00000678085.1:n.1335T>C
ENST00000678177.1:n.2628T>C
ENST00000678603.1:n.1857T>C
ENST00000678724.1:c.704T>C ENSP00000503874.1:p.Leu235Pro
ENST00000678920.1:n.937T>C
ENST00000679019.1:n.1549T>C
ENST00000679117.1:c.*594T>C ENSP00000503240.1:n.*594T>C
ENST00000679339.1:n.1620T>C
ENST00000326739.8:c.779T>C ENSP00000321584.4:p.Leu260Pro
ENST00000429182.5:c.573T>C
ENST00000442157.1:c.704T>C ENSP00000403502.1:p.Leu235Pro
ENST00000462980.1:n.681T>C
ENST00000491610.1:n.739T>C
NM_000884.2:c.779T>C NP_000875.2:p.Leu260Pro
XM_006713128.2:c.989T>C XP_006713191.1:p.Leu330Pro
XM_006713128.3:c.989T>C XP_006713191.1:p.Leu330Pro
XM_017006349.1:c.914T>C XP_016861838.1:p.Leu305Pro
XM_017006350.1:c.914T>C XP_016861839.1:p.Leu305Pro
NM_000884.3:c.779T>C MANE Select NP_000875.2:p.Leu260Pro