Canonical Allele Identifier: CA352741759

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026992-T-C
• MyVariant Identifiers: chr3:g.49064425T>C (hg19) ; chr3:g.49026992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026992T>C , CM000665.2:g.49026992T>C	GRCh38
NC_000003.11:g.49064425T>C , CM000665.1:g.49064425T>C	GRCh37
NC_000003.10:g.49039429T>C	NCBI36
NG_012091.1:g.7451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2627A>G	ENSP00000515567.1:p.Glu876Gly
ENST00000703937.1:c.*1688A>G	ENSP00000515568.1:n.*1688A>G
ENST00000326739.9:c.587A>G MANE Select	ENSP00000321584.4:p.Glu196Gly
ENST00000429182.6:c.587A>G	ENSP00000393525.2:p.Glu196Gly
ENST00000442157.2:c.512A>G	ENSP00000403502.2:p.Glu171Gly
ENST00000462980.2:n.1102A>G
ENST00000472328.2:n.653A>G
ENST00000491610.2:n.474A>G
ENST00000676607.1:n.883A>G
ENST00000676627.1:n.1317A>G
ENST00000676708.1:n.1794A>G
ENST00000676864.1:n.1663A>G
ENST00000677010.1:c.623A>G	ENSP00000503089.1:p.Glu208Gly
ENST00000677108.1:n.2420A>G
ENST00000677168.1:n.1059A>G
ENST00000677185.1:n.1077A>G
ENST00000677205.1:n.1298A>G
ENST00000677344.1:n.1788A>G
ENST00000677480.1:c.*264A>G	ENSP00000504378.1:n.*264A>G
ENST00000677519.1:n.1297A>G
ENST00000677593.1:n.1070A>G
ENST00000677740.1:n.2019A>G
ENST00000677991.1:n.1760A>G
ENST00000678001.1:n.1080A>G
ENST00000678085.1:n.1070A>G
ENST00000678177.1:n.2363A>G
ENST00000678603.1:n.1665A>G
ENST00000678724.1:c.512A>G	ENSP00000503874.1:p.Glu171Gly
ENST00000678920.1:n.745A>G
ENST00000679019.1:n.1284A>G
ENST00000679117.1:c.*402A>G	ENSP00000503240.1:n.*402A>G
ENST00000679339.1:n.1355A>G
ENST00000326739.8:c.587A>G	ENSP00000321584.4:p.Glu196Gly
ENST00000429182.5:c.381A>G
ENST00000442157.1:c.512A>G	ENSP00000403502.1:p.Glu171Gly
ENST00000462980.1:n.489A>G
ENST00000491610.1:n.474A>G
NM_000884.2:c.587A>G	NP_000875.2:p.Glu196Gly
XM_006713128.2:c.797A>G	XP_006713191.1:p.Glu266Gly
XM_006713128.3:c.797A>G	XP_006713191.1:p.Glu266Gly
XM_017006349.1:c.722A>G	XP_016861838.1:p.Glu241Gly
XM_017006350.1:c.722A>G	XP_016861839.1:p.Glu241Gly
NM_000884.3:c.587A>G MANE Select	NP_000875.2:p.Glu196Gly