Canonical Allele Identifier: CA352740873

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093201800
• gnomAD v4: 3-49026847-G-A
• MyVariant Identifiers: chr3:g.49064280G>A (hg19) ; chr3:g.49026847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026847G>A , CM000665.2:g.49026847G>A	GRCh38
NC_000003.11:g.49064280G>A , CM000665.1:g.49064280G>A	GRCh37
NC_000003.10:g.49039284G>A	NCBI36
NG_012091.1:g.7596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2699C>T	ENSP00000515567.1:p.Ala900Val
ENST00000703937.1:c.*1760C>T	ENSP00000515568.1:n.*1760C>T
ENST00000326739.9:c.659C>T MANE Select	ENSP00000321584.4:p.Ala220Val
ENST00000429182.6:c.659C>T	ENSP00000393525.2:p.Ala220Val
ENST00000442157.2:c.584C>T	ENSP00000403502.2:p.Ala195Val
ENST00000462980.2:n.1174C>T
ENST00000472328.2:n.725C>T
ENST00000491610.2:n.619C>T
ENST00000676607.1:n.955C>T
ENST00000676627.1:n.1389C>T
ENST00000676708.1:n.1939C>T
ENST00000676864.1:n.1808C>T
ENST00000677010.1:c.695C>T	ENSP00000503089.1:p.Ala232Val
ENST00000677108.1:n.2565C>T
ENST00000677168.1:n.1131C>T
ENST00000677185.1:n.1222C>T
ENST00000677205.1:n.1443C>T
ENST00000677344.1:n.1933C>T
ENST00000677480.1:c.*336C>T	ENSP00000504378.1:n.*336C>T
ENST00000677519.1:n.1369C>T
ENST00000677593.1:n.1215C>T
ENST00000677740.1:n.2164C>T
ENST00000677991.1:n.1832C>T
ENST00000678001.1:n.1152C>T
ENST00000678085.1:n.1215C>T
ENST00000678177.1:n.2508C>T
ENST00000678603.1:n.1737C>T
ENST00000678724.1:c.584C>T	ENSP00000503874.1:p.Ala195Val
ENST00000678920.1:n.817C>T
ENST00000679019.1:n.1429C>T
ENST00000679117.1:c.*474C>T	ENSP00000503240.1:n.*474C>T
ENST00000679339.1:n.1500C>T
ENST00000326739.8:c.659C>T	ENSP00000321584.4:p.Ala220Val
ENST00000429182.5:c.453C>T
ENST00000442157.1:c.584C>T	ENSP00000403502.1:p.Ala195Val
ENST00000462980.1:n.561C>T
ENST00000491610.1:n.619C>T
NM_000884.2:c.659C>T	NP_000875.2:p.Ala220Val
XM_006713128.2:c.869C>T	XP_006713191.1:p.Ala290Val
XM_006713128.3:c.869C>T	XP_006713191.1:p.Ala290Val
XM_017006349.1:c.794C>T	XP_016861838.1:p.Ala265Val
XM_017006350.1:c.794C>T	XP_016861839.1:p.Ala265Val
NM_000884.3:c.659C>T MANE Select	NP_000875.2:p.Ala220Val