Canonical Allele Identifier: CA352740228
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026761-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026761C>G , CM000665.2:g.49026761C>G GRCh38
NC_000003.11:g.49064194C>G , CM000665.1:g.49064194C>G GRCh37
NC_000003.10:g.49039198C>G NCBI36
NG_012091.1:g.7682G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2785G>C ENSP00000515567.1:p.Ala929Pro
ENST00000703937.1:c.*1846G>C ENSP00000515568.1:n.*1846G>C
ENST00000326739.9:c.745G>C MANE Select ENSP00000321584.4:p.Ala249Pro
ENST00000429182.6:c.745G>C ENSP00000393525.2:p.Ala249Pro
ENST00000442157.2:c.670G>C ENSP00000403502.2:p.Ala224Pro
ENST00000462980.2:n.1260G>C
ENST00000472328.2:n.811G>C
ENST00000491610.2:n.705G>C
ENST00000676607.1:n.1041G>C
ENST00000676627.1:n.1475G>C
ENST00000676708.1:n.2025G>C
ENST00000676864.1:n.1894G>C
ENST00000677010.1:c.781G>C ENSP00000503089.1:p.Ala261Pro
ENST00000677108.1:n.2651G>C
ENST00000677168.1:n.1217G>C
ENST00000677185.1:n.1308G>C
ENST00000677205.1:n.1529G>C
ENST00000677344.1:n.2019G>C
ENST00000677480.1:c.*422G>C ENSP00000504378.1:n.*422G>C
ENST00000677519.1:n.1455G>C
ENST00000677593.1:n.1301G>C
ENST00000677740.1:n.2250G>C
ENST00000677991.1:n.1918G>C
ENST00000678001.1:n.1238G>C
ENST00000678085.1:n.1301G>C
ENST00000678177.1:n.2594G>C
ENST00000678603.1:n.1823G>C
ENST00000678724.1:c.670G>C ENSP00000503874.1:p.Ala224Pro
ENST00000678920.1:n.903G>C
ENST00000679019.1:n.1515G>C
ENST00000679117.1:c.*560G>C ENSP00000503240.1:n.*560G>C
ENST00000679339.1:n.1586G>C
ENST00000326739.8:c.745G>C ENSP00000321584.4:p.Ala249Pro
ENST00000429182.5:c.539G>C
ENST00000442157.1:c.670G>C ENSP00000403502.1:p.Ala224Pro
ENST00000462980.1:n.647G>C
ENST00000491610.1:n.705G>C
NM_000884.2:c.745G>C NP_000875.2:p.Ala249Pro
XM_006713128.2:c.955G>C XP_006713191.1:p.Ala319Pro
XM_006713128.3:c.955G>C XP_006713191.1:p.Ala319Pro
XM_017006349.1:c.880G>C XP_016861838.1:p.Ala294Pro
XM_017006350.1:c.880G>C XP_016861839.1:p.Ala294Pro
NM_000884.3:c.745G>C MANE Select NP_000875.2:p.Ala249Pro