Canonical Allele Identifier: CA352741665

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026983-T-C
• MyVariant Identifiers: chr3:g.49064416T>C (hg19) ; chr3:g.49026983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026983T>C , CM000665.2:g.49026983T>C	GRCh38
NC_000003.11:g.49064416T>C , CM000665.1:g.49064416T>C	GRCh37
NC_000003.10:g.49039420T>C	NCBI36
NG_012091.1:g.7460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2636A>G	ENSP00000515567.1:p.Glu879Gly
ENST00000703937.1:c.*1697A>G	ENSP00000515568.1:n.*1697A>G
ENST00000326739.9:c.596A>G MANE Select	ENSP00000321584.4:p.Glu199Gly
ENST00000429182.6:c.596A>G	ENSP00000393525.2:p.Glu199Gly
ENST00000442157.2:c.521A>G	ENSP00000403502.2:p.Glu174Gly
ENST00000462980.2:n.1111A>G
ENST00000472328.2:n.662A>G
ENST00000491610.2:n.483A>G
ENST00000676607.1:n.892A>G
ENST00000676627.1:n.1326A>G
ENST00000676708.1:n.1803A>G
ENST00000676864.1:n.1672A>G
ENST00000677010.1:c.632A>G	ENSP00000503089.1:p.Glu211Gly
ENST00000677108.1:n.2429A>G
ENST00000677168.1:n.1068A>G
ENST00000677185.1:n.1086A>G
ENST00000677205.1:n.1307A>G
ENST00000677344.1:n.1797A>G
ENST00000677480.1:c.*273A>G	ENSP00000504378.1:n.*273A>G
ENST00000677519.1:n.1306A>G
ENST00000677593.1:n.1079A>G
ENST00000677740.1:n.2028A>G
ENST00000677991.1:n.1769A>G
ENST00000678001.1:n.1089A>G
ENST00000678085.1:n.1079A>G
ENST00000678177.1:n.2372A>G
ENST00000678603.1:n.1674A>G
ENST00000678724.1:c.521A>G	ENSP00000503874.1:p.Glu174Gly
ENST00000678920.1:n.754A>G
ENST00000679019.1:n.1293A>G
ENST00000679117.1:c.*411A>G	ENSP00000503240.1:n.*411A>G
ENST00000679339.1:n.1364A>G
ENST00000326739.8:c.596A>G	ENSP00000321584.4:p.Glu199Gly
ENST00000429182.5:c.390A>G
ENST00000442157.1:c.521A>G	ENSP00000403502.1:p.Glu174Gly
ENST00000462980.1:n.498A>G
ENST00000491610.1:n.483A>G
NM_000884.2:c.596A>G	NP_000875.2:p.Glu199Gly
XM_006713128.2:c.806A>G	XP_006713191.1:p.Glu269Gly
XM_006713128.3:c.806A>G	XP_006713191.1:p.Glu269Gly
XM_017006349.1:c.731A>G	XP_016861838.1:p.Glu244Gly
XM_017006350.1:c.731A>G	XP_016861839.1:p.Glu244Gly
NM_000884.3:c.596A>G MANE Select	NP_000875.2:p.Glu199Gly