Canonical Allele Identifier: CA433629721

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026879-C-T
• MyVariant Identifiers: chr3:g.49064312C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026879C>T , CM000665.2:g.49026879C>T	GRCh38
NC_000003.11:g.49064312C>T , CM000665.1:g.49064312C>T	GRCh37
NC_000003.10:g.49039316C>T	NCBI36
NG_012091.1:g.7564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2667G>A	ENSP00000515567.1:p.Leu889=
ENST00000703937.1:c.*1728G>A	ENSP00000515568.1:n.*1728G>A
ENST00000326739.9:c.627G>A MANE Select	ENSP00000321584.4:p.Leu209=
ENST00000429182.6:c.627G>A	ENSP00000393525.2:p.Leu209=
ENST00000442157.2:c.552G>A	ENSP00000403502.2:p.Leu184=
ENST00000462980.2:n.1142G>A
ENST00000472328.2:n.693G>A
ENST00000491610.2:n.587G>A
ENST00000676607.1:n.923G>A
ENST00000676627.1:n.1357G>A
ENST00000676708.1:n.1907G>A
ENST00000676864.1:n.1776G>A
ENST00000677010.1:c.663G>A	ENSP00000503089.1:p.Leu221=
ENST00000677108.1:n.2533G>A
ENST00000677168.1:n.1099G>A
ENST00000677185.1:n.1190G>A
ENST00000677205.1:n.1411G>A
ENST00000677344.1:n.1901G>A
ENST00000677480.1:c.*304G>A	ENSP00000504378.1:n.*304G>A
ENST00000677519.1:n.1337G>A
ENST00000677593.1:n.1183G>A
ENST00000677740.1:n.2132G>A
ENST00000677991.1:n.1800G>A
ENST00000678001.1:n.1120G>A
ENST00000678085.1:n.1183G>A
ENST00000678177.1:n.2476G>A
ENST00000678603.1:n.1705G>A
ENST00000678724.1:c.552G>A	ENSP00000503874.1:p.Leu184=
ENST00000678920.1:n.785G>A
ENST00000679019.1:n.1397G>A
ENST00000679117.1:c.*442G>A	ENSP00000503240.1:n.*442G>A
ENST00000679339.1:n.1468G>A
ENST00000326739.8:c.627G>A	ENSP00000321584.4:p.Leu209=
ENST00000429182.5:c.421G>A
ENST00000442157.1:c.552G>A	ENSP00000403502.1:p.Leu184=
ENST00000462980.1:n.529G>A
ENST00000491610.1:n.587G>A
NM_000884.2:c.627G>A	NP_000875.2:p.Leu209=
XM_006713128.2:c.837G>A	XP_006713191.1:p.Leu279=
XM_006713128.3:c.837G>A	XP_006713191.1:p.Leu279=
XM_017006349.1:c.762G>A	XP_016861838.1:p.Leu254=
XM_017006350.1:c.762G>A	XP_016861839.1:p.Leu254=
NM_000884.3:c.627G>A MANE Select	NP_000875.2:p.Leu209=