Canonical Allele Identifier: CA2390623

Gene: IMPDH2

Linked Data

• dbSNP Id: rs746086983
• ExAC: 3:49064204 C / T
• gnomAD v2: 3-49064204-C-T
• MyVariant Identifiers: chr3:g.49064204C>T (hg19) ; chr3:g.49026771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026771C>T , CM000665.2:g.49026771C>T	GRCh38
NC_000003.11:g.49064204C>T , CM000665.1:g.49064204C>T	GRCh37
NC_000003.10:g.49039208C>T	NCBI36
NG_012091.1:g.7672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2775G>A	ENSP00000515567.1:p.Leu925=
ENST00000703937.1:c.*1836G>A	ENSP00000515568.1:n.*1836G>A
ENST00000326739.9:c.735G>A MANE Select	ENSP00000321584.4:p.Leu245=
ENST00000429182.6:c.735G>A	ENSP00000393525.2:p.Leu245=
ENST00000442157.2:c.660G>A	ENSP00000403502.2:p.Leu220=
ENST00000462980.2:n.1250G>A
ENST00000472328.2:n.801G>A
ENST00000491610.2:n.695G>A
ENST00000676607.1:n.1031G>A
ENST00000676627.1:n.1465G>A
ENST00000676708.1:n.2015G>A
ENST00000676864.1:n.1884G>A
ENST00000677010.1:c.771G>A	ENSP00000503089.1:p.Leu257=
ENST00000677108.1:n.2641G>A
ENST00000677168.1:n.1207G>A
ENST00000677185.1:n.1298G>A
ENST00000677205.1:n.1519G>A
ENST00000677344.1:n.2009G>A
ENST00000677480.1:c.*412G>A	ENSP00000504378.1:n.*412G>A
ENST00000677519.1:n.1445G>A
ENST00000677593.1:n.1291G>A
ENST00000677740.1:n.2240G>A
ENST00000677991.1:n.1908G>A
ENST00000678001.1:n.1228G>A
ENST00000678085.1:n.1291G>A
ENST00000678177.1:n.2584G>A
ENST00000678603.1:n.1813G>A
ENST00000678724.1:c.660G>A	ENSP00000503874.1:p.Leu220=
ENST00000678920.1:n.893G>A
ENST00000679019.1:n.1505G>A
ENST00000679117.1:c.*550G>A	ENSP00000503240.1:n.*550G>A
ENST00000679339.1:n.1576G>A
ENST00000326739.8:c.735G>A	ENSP00000321584.4:p.Leu245=
ENST00000429182.5:c.529G>A
ENST00000442157.1:c.660G>A	ENSP00000403502.1:p.Leu220=
ENST00000462980.1:n.637G>A
ENST00000491610.1:n.695G>A
NM_000884.2:c.735G>A	NP_000875.2:p.Leu245=
XM_006713128.2:c.945G>A	XP_006713191.1:p.Leu315=
XM_006713128.3:c.945G>A	XP_006713191.1:p.Leu315=
XM_017006349.1:c.870G>A	XP_016861838.1:p.Leu290=
XM_017006350.1:c.870G>A	XP_016861839.1:p.Leu290=
NM_000884.3:c.735G>A MANE Select	NP_000875.2:p.Leu245=