Canonical Allele Identifier: CA647881447
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026938-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026938C>G , CM000665.2:g.49026938C>G GRCh38
NC_000003.11:g.49064371C>G , CM000665.1:g.49064371C>G GRCh37
NC_000003.10:g.49039375C>G NCBI36
NG_012091.1:g.7505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2659+22G>C ENSP00000515567.1:n.2659+22G>C
ENST00000703937.1:c.*1720+22G>C ENSP00000515568.1:n.*1720+22G>C
ENST00000326739.9:c.619+22G>C MANE Select ENSP00000321584.4:n.619+22G>C
ENST00000429182.6:c.619+22G>C ENSP00000393525.2:n.619+22G>C
ENST00000442157.2:c.544+22G>C ENSP00000403502.2:n.544+22G>C
ENST00000462980.2:n.1134+22G>C
ENST00000472328.2:n.685+22G>C
ENST00000491610.2:n.528G>C
ENST00000676607.1:n.915+22G>C
ENST00000676627.1:n.1349+22G>C
ENST00000676708.1:n.1848G>C
ENST00000676864.1:n.1717G>C
ENST00000677010.1:c.655+22G>C ENSP00000503089.1:n.655+22G>C
ENST00000677108.1:n.2474G>C
ENST00000677168.1:n.1091+22G>C
ENST00000677185.1:n.1131G>C
ENST00000677205.1:n.1352G>C
ENST00000677344.1:n.1842G>C
ENST00000677480.1:c.*296+22G>C ENSP00000504378.1:n.*296+22G>C
ENST00000677519.1:n.1329+22G>C
ENST00000677593.1:n.1124G>C
ENST00000677740.1:n.2073G>C
ENST00000677991.1:n.1792+22G>C
ENST00000678001.1:n.1112+22G>C
ENST00000678085.1:n.1124G>C
ENST00000678177.1:n.2417G>C
ENST00000678603.1:n.1697+22G>C
ENST00000678724.1:c.544+22G>C ENSP00000503874.1:n.544+22G>C
ENST00000678920.1:n.777+22G>C
ENST00000679019.1:n.1338G>C
ENST00000679117.1:c.*434+22G>C ENSP00000503240.1:n.*434+22G>C
ENST00000679339.1:n.1409G>C
ENST00000326739.8:c.619+22G>C ENSP00000321584.4:n.619+22G>C
ENST00000429182.5:c.413+22G>C
ENST00000442157.1:c.544+22G>C ENSP00000403502.1:n.544+22G>C
ENST00000462980.1:n.521+22G>C
ENST00000491610.1:n.528G>C
NM_000884.2:c.619+22G>C NP_000875.2:n.619+22G>C
XM_006713128.2:c.829+22G>C XP_006713191.1:n.829+22G>C
XM_006713128.3:c.829+22G>C XP_006713191.1:n.829+22G>C
XM_017006349.1:c.754+22G>C XP_016861838.1:n.754+22G>C
XM_017006350.1:c.754+22G>C XP_016861839.1:n.754+22G>C
NM_000884.3:c.619+22G>C MANE Select NP_000875.2:n.619+22G>C