Canonical Allele Identifier: CA352740795
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026832-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026832G>T , CM000665.2:g.49026832G>T GRCh38
NC_000003.11:g.49064265G>T , CM000665.1:g.49064265G>T GRCh37
NC_000003.10:g.49039269G>T NCBI36
NG_012091.1:g.7611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2714C>A ENSP00000515567.1:p.Thr905Lys
ENST00000703937.1:c.*1775C>A ENSP00000515568.1:n.*1775C>A
ENST00000326739.9:c.674C>A MANE Select ENSP00000321584.4:p.Thr225Lys
ENST00000429182.6:c.674C>A ENSP00000393525.2:p.Thr225Lys
ENST00000442157.2:c.599C>A ENSP00000403502.2:p.Thr200Lys
ENST00000462980.2:n.1189C>A
ENST00000472328.2:n.740C>A
ENST00000491610.2:n.634C>A
ENST00000676607.1:n.970C>A
ENST00000676627.1:n.1404C>A
ENST00000676708.1:n.1954C>A
ENST00000676864.1:n.1823C>A
ENST00000677010.1:c.710C>A ENSP00000503089.1:p.Thr237Lys
ENST00000677108.1:n.2580C>A
ENST00000677168.1:n.1146C>A
ENST00000677185.1:n.1237C>A
ENST00000677205.1:n.1458C>A
ENST00000677344.1:n.1948C>A
ENST00000677480.1:c.*351C>A ENSP00000504378.1:n.*351C>A
ENST00000677519.1:n.1384C>A
ENST00000677593.1:n.1230C>A
ENST00000677740.1:n.2179C>A
ENST00000677991.1:n.1847C>A
ENST00000678001.1:n.1167C>A
ENST00000678085.1:n.1230C>A
ENST00000678177.1:n.2523C>A
ENST00000678603.1:n.1752C>A
ENST00000678724.1:c.599C>A ENSP00000503874.1:p.Thr200Lys
ENST00000678920.1:n.832C>A
ENST00000679019.1:n.1444C>A
ENST00000679117.1:c.*489C>A ENSP00000503240.1:n.*489C>A
ENST00000679339.1:n.1515C>A
ENST00000326739.8:c.674C>A ENSP00000321584.4:p.Thr225Lys
ENST00000429182.5:c.468C>A
ENST00000442157.1:c.599C>A ENSP00000403502.1:p.Thr200Lys
ENST00000462980.1:n.576C>A
ENST00000491610.1:n.634C>A
NM_000884.2:c.674C>A NP_000875.2:p.Thr225Lys
XM_006713128.2:c.884C>A XP_006713191.1:p.Thr295Lys
XM_006713128.3:c.884C>A XP_006713191.1:p.Thr295Lys
XM_017006349.1:c.809C>A XP_016861838.1:p.Thr270Lys
XM_017006350.1:c.809C>A XP_016861839.1:p.Thr270Lys
NM_000884.3:c.674C>A MANE Select NP_000875.2:p.Thr225Lys