Canonical Allele Identifier: CA352740620

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026814-C-T
• MyVariant Identifiers: chr3:g.49064247C>T (hg19) ; chr3:g.49026814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026814C>T , CM000665.2:g.49026814C>T	GRCh38
NC_000003.11:g.49064247C>T , CM000665.1:g.49064247C>T	GRCh37
NC_000003.10:g.49039251C>T	NCBI36
NG_012091.1:g.7629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2732G>A	ENSP00000515567.1:p.Arg911Gln
ENST00000703937.1:c.*1793G>A	ENSP00000515568.1:n.*1793G>A
ENST00000326739.9:c.692G>A MANE Select	ENSP00000321584.4:p.Arg231Gln
ENST00000429182.6:c.692G>A	ENSP00000393525.2:p.Arg231Gln
ENST00000442157.2:c.617G>A	ENSP00000403502.2:p.Arg206Gln
ENST00000462980.2:n.1207G>A
ENST00000472328.2:n.758G>A
ENST00000491610.2:n.652G>A
ENST00000676607.1:n.988G>A
ENST00000676627.1:n.1422G>A
ENST00000676708.1:n.1972G>A
ENST00000676864.1:n.1841G>A
ENST00000677010.1:c.728G>A	ENSP00000503089.1:p.Arg243Gln
ENST00000677108.1:n.2598G>A
ENST00000677168.1:n.1164G>A
ENST00000677185.1:n.1255G>A
ENST00000677205.1:n.1476G>A
ENST00000677344.1:n.1966G>A
ENST00000677480.1:c.*369G>A	ENSP00000504378.1:n.*369G>A
ENST00000677519.1:n.1402G>A
ENST00000677593.1:n.1248G>A
ENST00000677740.1:n.2197G>A
ENST00000677991.1:n.1865G>A
ENST00000678001.1:n.1185G>A
ENST00000678085.1:n.1248G>A
ENST00000678177.1:n.2541G>A
ENST00000678603.1:n.1770G>A
ENST00000678724.1:c.617G>A	ENSP00000503874.1:p.Arg206Gln
ENST00000678920.1:n.850G>A
ENST00000679019.1:n.1462G>A
ENST00000679117.1:c.*507G>A	ENSP00000503240.1:n.*507G>A
ENST00000679339.1:n.1533G>A
ENST00000326739.8:c.692G>A	ENSP00000321584.4:p.Arg231Gln
ENST00000429182.5:c.486G>A
ENST00000442157.1:c.617G>A	ENSP00000403502.1:p.Arg206Gln
ENST00000462980.1:n.594G>A
ENST00000491610.1:n.652G>A
NM_000884.2:c.692G>A	NP_000875.2:p.Arg231Gln
XM_006713128.2:c.902G>A	XP_006713191.1:p.Arg301Gln
XM_006713128.3:c.902G>A	XP_006713191.1:p.Arg301Gln
XM_017006349.1:c.827G>A	XP_016861838.1:p.Arg276Gln
XM_017006350.1:c.827G>A	XP_016861839.1:p.Arg276Gln
NM_000884.3:c.692G>A MANE Select	NP_000875.2:p.Arg231Gln