Canonical Allele Identifier: CA352739930
Gene: IMPDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026712T>A , CM000665.2:g.49026712T>A GRCh38
NC_000003.11:g.49064145T>A , CM000665.1:g.49064145T>A GRCh37
NC_000003.10:g.49039149T>A NCBI36
NG_012091.1:g.7731A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2834A>T ENSP00000515567.1:p.Gln945Leu
ENST00000703937.1:c.*1895A>T ENSP00000515568.1:n.*1895A>T
ENST00000326739.9:c.794A>T MANE Select ENSP00000321584.4:p.Gln265Leu
ENST00000429182.6:c.794A>T ENSP00000393525.2:p.Gln265Leu
ENST00000442157.2:c.719A>T ENSP00000403502.2:p.Gln240Leu
ENST00000462980.2:n.1309A>T
ENST00000472328.2:n.860A>T
ENST00000491610.2:n.754A>T
ENST00000676607.1:n.1090A>T
ENST00000676627.1:n.1524A>T
ENST00000676708.1:n.2074A>T
ENST00000676864.1:n.1943A>T
ENST00000677010.1:c.830A>T ENSP00000503089.1:p.Gln277Leu
ENST00000677108.1:n.2700A>T
ENST00000677168.1:n.1266A>T
ENST00000677185.1:n.1357A>T
ENST00000677205.1:n.1578A>T
ENST00000677344.1:n.2068A>T
ENST00000677480.1:c.*471A>T ENSP00000504378.1:n.*471A>T
ENST00000677519.1:n.1504A>T
ENST00000677593.1:n.1350A>T
ENST00000677740.1:n.2299A>T
ENST00000677991.1:n.1967A>T
ENST00000678001.1:n.1287A>T
ENST00000678085.1:n.1350A>T
ENST00000678177.1:n.2643A>T
ENST00000678603.1:n.1872A>T
ENST00000678724.1:c.719A>T ENSP00000503874.1:p.Gln240Leu
ENST00000678920.1:n.952A>T
ENST00000679019.1:n.1564A>T
ENST00000679117.1:c.*609A>T ENSP00000503240.1:n.*609A>T
ENST00000679339.1:n.1635A>T
ENST00000326739.8:c.794A>T ENSP00000321584.4:p.Gln265Leu
ENST00000429182.5:c.588A>T
ENST00000442157.1:c.719A>T ENSP00000403502.1:p.Gln240Leu
ENST00000462980.1:n.696A>T
ENST00000491610.1:n.754A>T
NM_000884.2:c.794A>T NP_000875.2:p.Gln265Leu
XM_006713128.2:c.1004A>T XP_006713191.1:p.Gln335Leu
XM_006713128.3:c.1004A>T XP_006713191.1:p.Gln335Leu
XM_017006349.1:c.929A>T XP_016861838.1:p.Gln310Leu
XM_017006350.1:c.929A>T XP_016861839.1:p.Gln310Leu
NM_000884.3:c.794A>T MANE Select NP_000875.2:p.Gln265Leu