Canonical Allele Identifier: CA352740791
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026830-C-G
COSMIC: COSM13878

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026830C>G , CM000665.2:g.49026830C>G GRCh38
NC_000003.11:g.49064263C>G , CM000665.1:g.49064263C>G GRCh37
NC_000003.10:g.49039267C>G NCBI36
NG_012091.1:g.7613G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2716G>C ENSP00000515567.1:p.Asp906His
ENST00000703937.1:c.*1777G>C ENSP00000515568.1:n.*1777G>C
ENST00000326739.9:c.676G>C MANE Select ENSP00000321584.4:p.Asp226His
ENST00000429182.6:c.676G>C ENSP00000393525.2:p.Asp226His
ENST00000442157.2:c.601G>C ENSP00000403502.2:p.Asp201His
ENST00000462980.2:n.1191G>C
ENST00000472328.2:n.742G>C
ENST00000491610.2:n.636G>C
ENST00000676607.1:n.972G>C
ENST00000676627.1:n.1406G>C
ENST00000676708.1:n.1956G>C
ENST00000676864.1:n.1825G>C
ENST00000677010.1:c.712G>C ENSP00000503089.1:p.Asp238His
ENST00000677108.1:n.2582G>C
ENST00000677168.1:n.1148G>C
ENST00000677185.1:n.1239G>C
ENST00000677205.1:n.1460G>C
ENST00000677344.1:n.1950G>C
ENST00000677480.1:c.*353G>C ENSP00000504378.1:n.*353G>C
ENST00000677519.1:n.1386G>C
ENST00000677593.1:n.1232G>C
ENST00000677740.1:n.2181G>C
ENST00000677991.1:n.1849G>C
ENST00000678001.1:n.1169G>C
ENST00000678085.1:n.1232G>C
ENST00000678177.1:n.2525G>C
ENST00000678603.1:n.1754G>C
ENST00000678724.1:c.601G>C ENSP00000503874.1:p.Asp201His
ENST00000678920.1:n.834G>C
ENST00000679019.1:n.1446G>C
ENST00000679117.1:c.*491G>C ENSP00000503240.1:n.*491G>C
ENST00000679339.1:n.1517G>C
ENST00000326739.8:c.676G>C ENSP00000321584.4:p.Asp226His
ENST00000429182.5:c.470G>C
ENST00000442157.1:c.601G>C ENSP00000403502.1:p.Asp201His
ENST00000462980.1:n.578G>C
ENST00000491610.1:n.636G>C
NM_000884.2:c.676G>C NP_000875.2:p.Asp226His
XM_006713128.2:c.886G>C XP_006713191.1:p.Asp296His
XM_006713128.3:c.886G>C XP_006713191.1:p.Asp296His
XM_017006349.1:c.811G>C XP_016861838.1:p.Asp271His
XM_017006350.1:c.811G>C XP_016861839.1:p.Asp271His
NM_000884.3:c.676G>C MANE Select NP_000875.2:p.Asp226His