Canonical Allele Identifier: CA352740928

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064289T>A (hg19) ; chr3:g.49026856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026856T>A , CM000665.2:g.49026856T>A	GRCh38
NC_000003.11:g.49064289T>A , CM000665.1:g.49064289T>A	GRCh37
NC_000003.10:g.49039293T>A	NCBI36
NG_012091.1:g.7587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2690A>T	ENSP00000515567.1:p.Glu897Val
ENST00000703937.1:c.*1751A>T	ENSP00000515568.1:n.*1751A>T
ENST00000326739.9:c.650A>T MANE Select	ENSP00000321584.4:p.Glu217Val
ENST00000429182.6:c.650A>T	ENSP00000393525.2:p.Glu217Val
ENST00000442157.2:c.575A>T	ENSP00000403502.2:p.Glu192Val
ENST00000462980.2:n.1165A>T
ENST00000472328.2:n.716A>T
ENST00000491610.2:n.610A>T
ENST00000676607.1:n.946A>T
ENST00000676627.1:n.1380A>T
ENST00000676708.1:n.1930A>T
ENST00000676864.1:n.1799A>T
ENST00000677010.1:c.686A>T	ENSP00000503089.1:p.Glu229Val
ENST00000677108.1:n.2556A>T
ENST00000677168.1:n.1122A>T
ENST00000677185.1:n.1213A>T
ENST00000677205.1:n.1434A>T
ENST00000677344.1:n.1924A>T
ENST00000677480.1:c.*327A>T	ENSP00000504378.1:n.*327A>T
ENST00000677519.1:n.1360A>T
ENST00000677593.1:n.1206A>T
ENST00000677740.1:n.2155A>T
ENST00000677991.1:n.1823A>T
ENST00000678001.1:n.1143A>T
ENST00000678085.1:n.1206A>T
ENST00000678177.1:n.2499A>T
ENST00000678603.1:n.1728A>T
ENST00000678724.1:c.575A>T	ENSP00000503874.1:p.Glu192Val
ENST00000678920.1:n.808A>T
ENST00000679019.1:n.1420A>T
ENST00000679117.1:c.*465A>T	ENSP00000503240.1:n.*465A>T
ENST00000679339.1:n.1491A>T
ENST00000326739.8:c.650A>T	ENSP00000321584.4:p.Glu217Val
ENST00000429182.5:c.444A>T
ENST00000442157.1:c.575A>T	ENSP00000403502.1:p.Glu192Val
ENST00000462980.1:n.552A>T
ENST00000491610.1:n.610A>T
NM_000884.2:c.650A>T	NP_000875.2:p.Glu217Val
XM_006713128.2:c.860A>T	XP_006713191.1:p.Glu287Val
XM_006713128.3:c.860A>T	XP_006713191.1:p.Glu287Val
XM_017006349.1:c.785A>T	XP_016861838.1:p.Glu262Val
XM_017006350.1:c.785A>T	XP_016861839.1:p.Glu262Val
NM_000884.3:c.650A>T MANE Select	NP_000875.2:p.Glu217Val