Canonical Allele Identifier: CA352739854

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064133T>A (hg19) ; chr3:g.49026700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026700T>A , CM000665.2:g.49026700T>A	GRCh38
NC_000003.11:g.49064133T>A , CM000665.1:g.49064133T>A	GRCh37
NC_000003.10:g.49039137T>A	NCBI36
NG_012091.1:g.7743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2846A>T	ENSP00000515567.1:p.Asp949Val
ENST00000703937.1:c.*1907A>T	ENSP00000515568.1:n.*1907A>T
ENST00000326739.9:c.806A>T MANE Select	ENSP00000321584.4:p.Asp269Val
ENST00000429182.6:c.806A>T	ENSP00000393525.2:p.Asp269Val
ENST00000442157.2:c.731A>T	ENSP00000403502.2:p.Asp244Val
ENST00000462980.2:n.1321A>T
ENST00000472328.2:n.872A>T
ENST00000491610.2:n.766A>T
ENST00000676607.1:n.1102A>T
ENST00000676627.1:n.1536A>T
ENST00000676708.1:n.2086A>T
ENST00000676864.1:n.1955A>T
ENST00000677010.1:c.842A>T	ENSP00000503089.1:p.Asp281Val
ENST00000677108.1:n.2712A>T
ENST00000677168.1:n.1278A>T
ENST00000677185.1:n.1369A>T
ENST00000677205.1:n.1590A>T
ENST00000677344.1:n.2080A>T
ENST00000677480.1:c.*483A>T	ENSP00000504378.1:n.*483A>T
ENST00000677519.1:n.1516A>T
ENST00000677593.1:n.1362A>T
ENST00000677740.1:n.2311A>T
ENST00000677991.1:n.1979A>T
ENST00000678001.1:n.1299A>T
ENST00000678085.1:n.1362A>T
ENST00000678177.1:n.2655A>T
ENST00000678603.1:n.1884A>T
ENST00000678724.1:c.731A>T	ENSP00000503874.1:p.Asp244Val
ENST00000678920.1:n.964A>T
ENST00000679019.1:n.1576A>T
ENST00000679117.1:c.*621A>T	ENSP00000503240.1:n.*621A>T
ENST00000679339.1:n.1647A>T
ENST00000326739.8:c.806A>T	ENSP00000321584.4:p.Asp269Val
ENST00000429182.5:c.600A>T
ENST00000442157.1:c.731A>T	ENSP00000403502.1:p.Asp244Val
ENST00000462980.1:n.708A>T
ENST00000491610.1:n.766A>T
NM_000884.2:c.806A>T	NP_000875.2:p.Asp269Val
XM_006713128.2:c.1016A>T	XP_006713191.1:p.Asp339Val
XM_006713128.3:c.1016A>T	XP_006713191.1:p.Asp339Val
XM_017006349.1:c.941A>T	XP_016861838.1:p.Asp314Val
XM_017006350.1:c.941A>T	XP_016861839.1:p.Asp314Val
NM_000884.3:c.806A>T MANE Select	NP_000875.2:p.Asp269Val