Canonical Allele Identifier: CA433629528
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1440481790
gnomAD v3: 3-49026741-A-G
gnomAD v4: 3-49026741-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026741A>G , CM000665.2:g.49026741A>G GRCh38
NC_000003.11:g.49064174A>G , CM000665.1:g.49064174A>G GRCh37
NC_000003.10:g.49039178A>G NCBI36
NG_012091.1:g.7702T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2805T>C ENSP00000515567.1:p.Asp935=
ENST00000703937.1:c.*1866T>C ENSP00000515568.1:n.*1866T>C
ENST00000326739.9:c.765T>C MANE Select ENSP00000321584.4:p.Asp255=
ENST00000429182.6:c.765T>C ENSP00000393525.2:p.Asp255=
ENST00000442157.2:c.690T>C ENSP00000403502.2:p.Asp230=
ENST00000462980.2:n.1280T>C
ENST00000472328.2:n.831T>C
ENST00000491610.2:n.725T>C
ENST00000676607.1:n.1061T>C
ENST00000676627.1:n.1495T>C
ENST00000676708.1:n.2045T>C
ENST00000676864.1:n.1914T>C
ENST00000677010.1:c.801T>C ENSP00000503089.1:p.Asp267=
ENST00000677108.1:n.2671T>C
ENST00000677168.1:n.1237T>C
ENST00000677185.1:n.1328T>C
ENST00000677205.1:n.1549T>C
ENST00000677344.1:n.2039T>C
ENST00000677480.1:c.*442T>C ENSP00000504378.1:n.*442T>C
ENST00000677519.1:n.1475T>C
ENST00000677593.1:n.1321T>C
ENST00000677740.1:n.2270T>C
ENST00000677991.1:n.1938T>C
ENST00000678001.1:n.1258T>C
ENST00000678085.1:n.1321T>C
ENST00000678177.1:n.2614T>C
ENST00000678603.1:n.1843T>C
ENST00000678724.1:c.690T>C ENSP00000503874.1:p.Asp230=
ENST00000678920.1:n.923T>C
ENST00000679019.1:n.1535T>C
ENST00000679117.1:c.*580T>C ENSP00000503240.1:n.*580T>C
ENST00000679339.1:n.1606T>C
ENST00000326739.8:c.765T>C ENSP00000321584.4:p.Asp255=
ENST00000429182.5:c.559T>C
ENST00000442157.1:c.690T>C ENSP00000403502.1:p.Asp230=
ENST00000462980.1:n.667T>C
ENST00000491610.1:n.725T>C
NM_000884.2:c.765T>C NP_000875.2:p.Asp255=
XM_006713128.2:c.975T>C XP_006713191.1:p.Asp325=
XM_006713128.3:c.975T>C XP_006713191.1:p.Asp325=
XM_017006349.1:c.900T>C XP_016861838.1:p.Asp300=
XM_017006350.1:c.900T>C XP_016861839.1:p.Asp300=
NM_000884.3:c.765T>C MANE Select NP_000875.2:p.Asp255=