Canonical Allele Identifier: CA352741662

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064415T>A (hg19) ; chr3:g.49026982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026982T>A , CM000665.2:g.49026982T>A	GRCh38
NC_000003.11:g.49064415T>A , CM000665.1:g.49064415T>A	GRCh37
NC_000003.10:g.49039419T>A	NCBI36
NG_012091.1:g.7461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2637A>T	ENSP00000515567.1:p.Glu879Asp
ENST00000703937.1:c.*1698A>T	ENSP00000515568.1:n.*1698A>T
ENST00000326739.9:c.597A>T MANE Select	ENSP00000321584.4:p.Glu199Asp
ENST00000429182.6:c.597A>T	ENSP00000393525.2:p.Glu199Asp
ENST00000442157.2:c.522A>T	ENSP00000403502.2:p.Glu174Asp
ENST00000462980.2:n.1112A>T
ENST00000472328.2:n.663A>T
ENST00000491610.2:n.484A>T
ENST00000676607.1:n.893A>T
ENST00000676627.1:n.1327A>T
ENST00000676708.1:n.1804A>T
ENST00000676864.1:n.1673A>T
ENST00000677010.1:c.633A>T	ENSP00000503089.1:p.Glu211Asp
ENST00000677108.1:n.2430A>T
ENST00000677168.1:n.1069A>T
ENST00000677185.1:n.1087A>T
ENST00000677205.1:n.1308A>T
ENST00000677344.1:n.1798A>T
ENST00000677480.1:c.*274A>T	ENSP00000504378.1:n.*274A>T
ENST00000677519.1:n.1307A>T
ENST00000677593.1:n.1080A>T
ENST00000677740.1:n.2029A>T
ENST00000677991.1:n.1770A>T
ENST00000678001.1:n.1090A>T
ENST00000678085.1:n.1080A>T
ENST00000678177.1:n.2373A>T
ENST00000678603.1:n.1675A>T
ENST00000678724.1:c.522A>T	ENSP00000503874.1:p.Glu174Asp
ENST00000678920.1:n.755A>T
ENST00000679019.1:n.1294A>T
ENST00000679117.1:c.*412A>T	ENSP00000503240.1:n.*412A>T
ENST00000679339.1:n.1365A>T
ENST00000326739.8:c.597A>T	ENSP00000321584.4:p.Glu199Asp
ENST00000429182.5:c.391A>T
ENST00000442157.1:c.522A>T	ENSP00000403502.1:p.Glu174Asp
ENST00000462980.1:n.499A>T
ENST00000491610.1:n.484A>T
NM_000884.2:c.597A>T	NP_000875.2:p.Glu199Asp
XM_006713128.2:c.807A>T	XP_006713191.1:p.Glu269Asp
XM_006713128.3:c.807A>T	XP_006713191.1:p.Glu269Asp
XM_017006349.1:c.732A>T	XP_016861838.1:p.Glu244Asp
XM_017006350.1:c.732A>T	XP_016861839.1:p.Glu244Asp
NM_000884.3:c.597A>T MANE Select	NP_000875.2:p.Glu199Asp