Canonical Allele Identifier: CA433629531
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064177C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026744C>T , CM000665.2:g.49026744C>T GRCh38
NC_000003.11:g.49064177C>T , CM000665.1:g.49064177C>T GRCh37
NC_000003.10:g.49039181C>T NCBI36
NG_012091.1:g.7699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2802G>A ENSP00000515567.1:p.Glu934=
ENST00000703937.1:c.*1863G>A ENSP00000515568.1:n.*1863G>A
ENST00000326739.9:c.762G>A MANE Select ENSP00000321584.4:p.Glu254=
ENST00000429182.6:c.762G>A ENSP00000393525.2:p.Glu254=
ENST00000442157.2:c.687G>A ENSP00000403502.2:p.Glu229=
ENST00000462980.2:n.1277G>A
ENST00000472328.2:n.828G>A
ENST00000491610.2:n.722G>A
ENST00000676607.1:n.1058G>A
ENST00000676627.1:n.1492G>A
ENST00000676708.1:n.2042G>A
ENST00000676864.1:n.1911G>A
ENST00000677010.1:c.798G>A ENSP00000503089.1:p.Glu266=
ENST00000677108.1:n.2668G>A
ENST00000677168.1:n.1234G>A
ENST00000677185.1:n.1325G>A
ENST00000677205.1:n.1546G>A
ENST00000677344.1:n.2036G>A
ENST00000677480.1:c.*439G>A ENSP00000504378.1:n.*439G>A
ENST00000677519.1:n.1472G>A
ENST00000677593.1:n.1318G>A
ENST00000677740.1:n.2267G>A
ENST00000677991.1:n.1935G>A
ENST00000678001.1:n.1255G>A
ENST00000678085.1:n.1318G>A
ENST00000678177.1:n.2611G>A
ENST00000678603.1:n.1840G>A
ENST00000678724.1:c.687G>A ENSP00000503874.1:p.Glu229=
ENST00000678920.1:n.920G>A
ENST00000679019.1:n.1532G>A
ENST00000679117.1:c.*577G>A ENSP00000503240.1:n.*577G>A
ENST00000679339.1:n.1603G>A
ENST00000326739.8:c.762G>A ENSP00000321584.4:p.Glu254=
ENST00000429182.5:c.556G>A
ENST00000442157.1:c.687G>A ENSP00000403502.1:p.Glu229=
ENST00000462980.1:n.664G>A
ENST00000491610.1:n.722G>A
NM_000884.2:c.762G>A NP_000875.2:p.Glu254=
XM_006713128.2:c.972G>A XP_006713191.1:p.Glu324=
XM_006713128.3:c.972G>A XP_006713191.1:p.Glu324=
XM_017006349.1:c.897G>A XP_016861838.1:p.Glu299=
XM_017006350.1:c.897G>A XP_016861839.1:p.Glu299=
NM_000884.3:c.762G>A MANE Select NP_000875.2:p.Glu254=