Canonical Allele Identifier: CA352741751

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064424C>A (hg19) ; chr3:g.49026991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026991C>A , CM000665.2:g.49026991C>A	GRCh38
NC_000003.11:g.49064424C>A , CM000665.1:g.49064424C>A	GRCh37
NC_000003.10:g.49039428C>A	NCBI36
NG_012091.1:g.7452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2628G>T	ENSP00000515567.1:p.Glu876Asp
ENST00000703937.1:c.*1689G>T	ENSP00000515568.1:n.*1689G>T
ENST00000326739.9:c.588G>T MANE Select	ENSP00000321584.4:p.Glu196Asp
ENST00000429182.6:c.588G>T	ENSP00000393525.2:p.Glu196Asp
ENST00000442157.2:c.513G>T	ENSP00000403502.2:p.Glu171Asp
ENST00000462980.2:n.1103G>T
ENST00000472328.2:n.654G>T
ENST00000491610.2:n.475G>T
ENST00000676607.1:n.884G>T
ENST00000676627.1:n.1318G>T
ENST00000676708.1:n.1795G>T
ENST00000676864.1:n.1664G>T
ENST00000677010.1:c.624G>T	ENSP00000503089.1:p.Glu208Asp
ENST00000677108.1:n.2421G>T
ENST00000677168.1:n.1060G>T
ENST00000677185.1:n.1078G>T
ENST00000677205.1:n.1299G>T
ENST00000677344.1:n.1789G>T
ENST00000677480.1:c.*265G>T	ENSP00000504378.1:n.*265G>T
ENST00000677519.1:n.1298G>T
ENST00000677593.1:n.1071G>T
ENST00000677740.1:n.2020G>T
ENST00000677991.1:n.1761G>T
ENST00000678001.1:n.1081G>T
ENST00000678085.1:n.1071G>T
ENST00000678177.1:n.2364G>T
ENST00000678603.1:n.1666G>T
ENST00000678724.1:c.513G>T	ENSP00000503874.1:p.Glu171Asp
ENST00000678920.1:n.746G>T
ENST00000679019.1:n.1285G>T
ENST00000679117.1:c.*403G>T	ENSP00000503240.1:n.*403G>T
ENST00000679339.1:n.1356G>T
ENST00000326739.8:c.588G>T	ENSP00000321584.4:p.Glu196Asp
ENST00000429182.5:c.382G>T
ENST00000442157.1:c.513G>T	ENSP00000403502.1:p.Glu171Asp
ENST00000462980.1:n.490G>T
ENST00000491610.1:n.475G>T
NM_000884.2:c.588G>T	NP_000875.2:p.Glu196Asp
XM_006713128.2:c.798G>T	XP_006713191.1:p.Glu266Asp
XM_006713128.3:c.798G>T	XP_006713191.1:p.Glu266Asp
XM_017006349.1:c.723G>T	XP_016861838.1:p.Glu241Asp
XM_017006350.1:c.723G>T	XP_016861839.1:p.Glu241Asp
NM_000884.3:c.588G>T MANE Select	NP_000875.2:p.Glu196Asp