Canonical Allele Identifier: CA352741047

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064298T>A (hg19) ; chr3:g.49026865T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026865T>A , CM000665.2:g.49026865T>A	GRCh38
NC_000003.11:g.49064298T>A , CM000665.1:g.49064298T>A	GRCh37
NC_000003.10:g.49039302T>A	NCBI36
NG_012091.1:g.7578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2681A>T	ENSP00000515567.1:p.Glu894Val
ENST00000703937.1:c.*1742A>T	ENSP00000515568.1:n.*1742A>T
ENST00000326739.9:c.641A>T MANE Select	ENSP00000321584.4:p.Glu214Val
ENST00000429182.6:c.641A>T	ENSP00000393525.2:p.Glu214Val
ENST00000442157.2:c.566A>T	ENSP00000403502.2:p.Glu189Val
ENST00000462980.2:n.1156A>T
ENST00000472328.2:n.707A>T
ENST00000491610.2:n.601A>T
ENST00000676607.1:n.937A>T
ENST00000676627.1:n.1371A>T
ENST00000676708.1:n.1921A>T
ENST00000676864.1:n.1790A>T
ENST00000677010.1:c.677A>T	ENSP00000503089.1:p.Glu226Val
ENST00000677108.1:n.2547A>T
ENST00000677168.1:n.1113A>T
ENST00000677185.1:n.1204A>T
ENST00000677205.1:n.1425A>T
ENST00000677344.1:n.1915A>T
ENST00000677480.1:c.*318A>T	ENSP00000504378.1:n.*318A>T
ENST00000677519.1:n.1351A>T
ENST00000677593.1:n.1197A>T
ENST00000677740.1:n.2146A>T
ENST00000677991.1:n.1814A>T
ENST00000678001.1:n.1134A>T
ENST00000678085.1:n.1197A>T
ENST00000678177.1:n.2490A>T
ENST00000678603.1:n.1719A>T
ENST00000678724.1:c.566A>T	ENSP00000503874.1:p.Glu189Val
ENST00000678920.1:n.799A>T
ENST00000679019.1:n.1411A>T
ENST00000679117.1:c.*456A>T	ENSP00000503240.1:n.*456A>T
ENST00000679339.1:n.1482A>T
ENST00000326739.8:c.641A>T	ENSP00000321584.4:p.Glu214Val
ENST00000429182.5:c.435A>T
ENST00000442157.1:c.566A>T	ENSP00000403502.1:p.Glu189Val
ENST00000462980.1:n.543A>T
ENST00000491610.1:n.601A>T
NM_000884.2:c.641A>T	NP_000875.2:p.Glu214Val
XM_006713128.2:c.851A>T	XP_006713191.1:p.Glu284Val
XM_006713128.3:c.851A>T	XP_006713191.1:p.Glu284Val
XM_017006349.1:c.776A>T	XP_016861838.1:p.Glu259Val
XM_017006350.1:c.776A>T	XP_016861839.1:p.Glu259Val
NM_000884.3:c.641A>T MANE Select	NP_000875.2:p.Glu214Val