Canonical Allele Identifier: CA433629552
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064195T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026762T>G , CM000665.2:g.49026762T>G GRCh38
NC_000003.11:g.49064195T>G , CM000665.1:g.49064195T>G GRCh37
NC_000003.10:g.49039199T>G NCBI36
NG_012091.1:g.7681A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2784A>C ENSP00000515567.1:p.Ala928=
ENST00000703937.1:c.*1845A>C ENSP00000515568.1:n.*1845A>C
ENST00000326739.9:c.744A>C MANE Select ENSP00000321584.4:p.Ala248=
ENST00000429182.6:c.744A>C ENSP00000393525.2:p.Ala248=
ENST00000442157.2:c.669A>C ENSP00000403502.2:p.Ala223=
ENST00000462980.2:n.1259A>C
ENST00000472328.2:n.810A>C
ENST00000491610.2:n.704A>C
ENST00000676607.1:n.1040A>C
ENST00000676627.1:n.1474A>C
ENST00000676708.1:n.2024A>C
ENST00000676864.1:n.1893A>C
ENST00000677010.1:c.780A>C ENSP00000503089.1:p.Ala260=
ENST00000677108.1:n.2650A>C
ENST00000677168.1:n.1216A>C
ENST00000677185.1:n.1307A>C
ENST00000677205.1:n.1528A>C
ENST00000677344.1:n.2018A>C
ENST00000677480.1:c.*421A>C ENSP00000504378.1:n.*421A>C
ENST00000677519.1:n.1454A>C
ENST00000677593.1:n.1300A>C
ENST00000677740.1:n.2249A>C
ENST00000677991.1:n.1917A>C
ENST00000678001.1:n.1237A>C
ENST00000678085.1:n.1300A>C
ENST00000678177.1:n.2593A>C
ENST00000678603.1:n.1822A>C
ENST00000678724.1:c.669A>C ENSP00000503874.1:p.Ala223=
ENST00000678920.1:n.902A>C
ENST00000679019.1:n.1514A>C
ENST00000679117.1:c.*559A>C ENSP00000503240.1:n.*559A>C
ENST00000679339.1:n.1585A>C
ENST00000326739.8:c.744A>C ENSP00000321584.4:p.Ala248=
ENST00000429182.5:c.538A>C
ENST00000442157.1:c.669A>C ENSP00000403502.1:p.Ala223=
ENST00000462980.1:n.646A>C
ENST00000491610.1:n.704A>C
NM_000884.2:c.744A>C NP_000875.2:p.Ala248=
XM_006713128.2:c.954A>C XP_006713191.1:p.Ala318=
XM_006713128.3:c.954A>C XP_006713191.1:p.Ala318=
XM_017006349.1:c.879A>C XP_016861838.1:p.Ala293=
XM_017006350.1:c.879A>C XP_016861839.1:p.Ala293=
NM_000884.3:c.744A>C MANE Select NP_000875.2:p.Ala248=