Canonical Allele Identifier: CA433629543

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064189A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026756A>T , CM000665.2:g.49026756A>T	GRCh38
NC_000003.11:g.49064189A>T , CM000665.1:g.49064189A>T	GRCh37
NC_000003.10:g.49039193A>T	NCBI36
NG_012091.1:g.7687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2790T>A	ENSP00000515567.1:p.Ile930=
ENST00000703937.1:c.*1851T>A	ENSP00000515568.1:n.*1851T>A
ENST00000326739.9:c.750T>A MANE Select	ENSP00000321584.4:p.Ile250=
ENST00000429182.6:c.750T>A	ENSP00000393525.2:p.Ile250=
ENST00000442157.2:c.675T>A	ENSP00000403502.2:p.Ile225=
ENST00000462980.2:n.1265T>A
ENST00000472328.2:n.816T>A
ENST00000491610.2:n.710T>A
ENST00000676607.1:n.1046T>A
ENST00000676627.1:n.1480T>A
ENST00000676708.1:n.2030T>A
ENST00000676864.1:n.1899T>A
ENST00000677010.1:c.786T>A	ENSP00000503089.1:p.Ile262=
ENST00000677108.1:n.2656T>A
ENST00000677168.1:n.1222T>A
ENST00000677185.1:n.1313T>A
ENST00000677205.1:n.1534T>A
ENST00000677344.1:n.2024T>A
ENST00000677480.1:c.*427T>A	ENSP00000504378.1:n.*427T>A
ENST00000677519.1:n.1460T>A
ENST00000677593.1:n.1306T>A
ENST00000677740.1:n.2255T>A
ENST00000677991.1:n.1923T>A
ENST00000678001.1:n.1243T>A
ENST00000678085.1:n.1306T>A
ENST00000678177.1:n.2599T>A
ENST00000678603.1:n.1828T>A
ENST00000678724.1:c.675T>A	ENSP00000503874.1:p.Ile225=
ENST00000678920.1:n.908T>A
ENST00000679019.1:n.1520T>A
ENST00000679117.1:c.*565T>A	ENSP00000503240.1:n.*565T>A
ENST00000679339.1:n.1591T>A
ENST00000326739.8:c.750T>A	ENSP00000321584.4:p.Ile250=
ENST00000429182.5:c.544T>A
ENST00000442157.1:c.675T>A	ENSP00000403502.1:p.Ile225=
ENST00000462980.1:n.652T>A
ENST00000491610.1:n.710T>A
NM_000884.2:c.750T>A	NP_000875.2:p.Ile250=
XM_006713128.2:c.960T>A	XP_006713191.1:p.Ile320=
XM_006713128.3:c.960T>A	XP_006713191.1:p.Ile320=
XM_017006349.1:c.885T>A	XP_016861838.1:p.Ile295=
XM_017006350.1:c.885T>A	XP_016861839.1:p.Ile295=
NM_000884.3:c.750T>A MANE Select	NP_000875.2:p.Ile250=