Canonical Allele Identifier: CA433629576
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064222A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026789A>G , CM000665.2:g.49026789A>G GRCh38
NC_000003.11:g.49064222A>G , CM000665.1:g.49064222A>G GRCh37
NC_000003.10:g.49039226A>G NCBI36
NG_012091.1:g.7654T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2757T>C ENSP00000515567.1:p.Asp919=
ENST00000703937.1:c.*1818T>C ENSP00000515568.1:n.*1818T>C
ENST00000326739.9:c.717T>C MANE Select ENSP00000321584.4:p.Asp239=
ENST00000429182.6:c.717T>C ENSP00000393525.2:p.Asp239=
ENST00000442157.2:c.642T>C ENSP00000403502.2:p.Asp214=
ENST00000462980.2:n.1232T>C
ENST00000472328.2:n.783T>C
ENST00000491610.2:n.677T>C
ENST00000676607.1:n.1013T>C
ENST00000676627.1:n.1447T>C
ENST00000676708.1:n.1997T>C
ENST00000676864.1:n.1866T>C
ENST00000677010.1:c.753T>C ENSP00000503089.1:p.Asp251=
ENST00000677108.1:n.2623T>C
ENST00000677168.1:n.1189T>C
ENST00000677185.1:n.1280T>C
ENST00000677205.1:n.1501T>C
ENST00000677344.1:n.1991T>C
ENST00000677480.1:c.*394T>C ENSP00000504378.1:n.*394T>C
ENST00000677519.1:n.1427T>C
ENST00000677593.1:n.1273T>C
ENST00000677740.1:n.2222T>C
ENST00000677991.1:n.1890T>C
ENST00000678001.1:n.1210T>C
ENST00000678085.1:n.1273T>C
ENST00000678177.1:n.2566T>C
ENST00000678603.1:n.1795T>C
ENST00000678724.1:c.642T>C ENSP00000503874.1:p.Asp214=
ENST00000678920.1:n.875T>C
ENST00000679019.1:n.1487T>C
ENST00000679117.1:c.*532T>C ENSP00000503240.1:n.*532T>C
ENST00000679339.1:n.1558T>C
ENST00000326739.8:c.717T>C ENSP00000321584.4:p.Asp239=
ENST00000429182.5:c.511T>C
ENST00000442157.1:c.642T>C ENSP00000403502.1:p.Asp214=
ENST00000462980.1:n.619T>C
ENST00000491610.1:n.677T>C
NM_000884.2:c.717T>C NP_000875.2:p.Asp239=
XM_006713128.2:c.927T>C XP_006713191.1:p.Asp309=
XM_006713128.3:c.927T>C XP_006713191.1:p.Asp309=
XM_017006349.1:c.852T>C XP_016861838.1:p.Asp284=
XM_017006350.1:c.852T>C XP_016861839.1:p.Asp284=
NM_000884.3:c.717T>C MANE Select NP_000875.2:p.Asp239=