Canonical Allele Identifier: CA433629593
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064234T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026801T>A , CM000665.2:g.49026801T>A GRCh38
NC_000003.11:g.49064234T>A , CM000665.1:g.49064234T>A GRCh37
NC_000003.10:g.49039238T>A NCBI36
NG_012091.1:g.7642A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2745A>T ENSP00000515567.1:p.Leu915=
ENST00000703937.1:c.*1806A>T ENSP00000515568.1:n.*1806A>T
ENST00000326739.9:c.705A>T MANE Select ENSP00000321584.4:p.Leu235=
ENST00000429182.6:c.705A>T ENSP00000393525.2:p.Leu235=
ENST00000442157.2:c.630A>T ENSP00000403502.2:p.Leu210=
ENST00000462980.2:n.1220A>T
ENST00000472328.2:n.771A>T
ENST00000491610.2:n.665A>T
ENST00000676607.1:n.1001A>T
ENST00000676627.1:n.1435A>T
ENST00000676708.1:n.1985A>T
ENST00000676864.1:n.1854A>T
ENST00000677010.1:c.741A>T ENSP00000503089.1:p.Leu247=
ENST00000677108.1:n.2611A>T
ENST00000677168.1:n.1177A>T
ENST00000677185.1:n.1268A>T
ENST00000677205.1:n.1489A>T
ENST00000677344.1:n.1979A>T
ENST00000677480.1:c.*382A>T ENSP00000504378.1:n.*382A>T
ENST00000677519.1:n.1415A>T
ENST00000677593.1:n.1261A>T
ENST00000677740.1:n.2210A>T
ENST00000677991.1:n.1878A>T
ENST00000678001.1:n.1198A>T
ENST00000678085.1:n.1261A>T
ENST00000678177.1:n.2554A>T
ENST00000678603.1:n.1783A>T
ENST00000678724.1:c.630A>T ENSP00000503874.1:p.Leu210=
ENST00000678920.1:n.863A>T
ENST00000679019.1:n.1475A>T
ENST00000679117.1:c.*520A>T ENSP00000503240.1:n.*520A>T
ENST00000679339.1:n.1546A>T
ENST00000326739.8:c.705A>T ENSP00000321584.4:p.Leu235=
ENST00000429182.5:c.499A>T
ENST00000442157.1:c.630A>T ENSP00000403502.1:p.Leu210=
ENST00000462980.1:n.607A>T
ENST00000491610.1:n.665A>T
NM_000884.2:c.705A>T NP_000875.2:p.Leu235=
XM_006713128.2:c.915A>T XP_006713191.1:p.Leu305=
XM_006713128.3:c.915A>T XP_006713191.1:p.Leu305=
XM_017006349.1:c.840A>T XP_016861838.1:p.Leu280=
XM_017006350.1:c.840A>T XP_016861839.1:p.Leu280=
NM_000884.3:c.705A>T MANE Select NP_000875.2:p.Leu235=