Canonical Allele Identifier: CA2390629

Gene: IMPDH2

Linked Data

• dbSNP Id: rs373752085
• ExAC: 3:49064268 C / T
• gnomAD v2: 3-49064268-C-T
• gnomAD v3: 3-49026835-C-T
• gnomAD v4: 3-49026835-C-T
• COSMIC: COSM3732042
• MyVariant Identifiers: chr3:g.49064268C>T (hg19) ; chr3:g.49026835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026835C>T , CM000665.2:g.49026835C>T	GRCh38
NC_000003.11:g.49064268C>T , CM000665.1:g.49064268C>T	GRCh37
NC_000003.10:g.49039272C>T	NCBI36
NG_012091.1:g.7608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2711G>A	ENSP00000515567.1:p.Arg904Gln
ENST00000703937.1:c.*1772G>A	ENSP00000515568.1:n.*1772G>A
ENST00000326739.9:c.671G>A MANE Select	ENSP00000321584.4:p.Arg224Gln
ENST00000429182.6:c.671G>A	ENSP00000393525.2:p.Arg224Gln
ENST00000442157.2:c.596G>A	ENSP00000403502.2:p.Arg199Gln
ENST00000462980.2:n.1186G>A
ENST00000472328.2:n.737G>A
ENST00000491610.2:n.631G>A
ENST00000676607.1:n.967G>A
ENST00000676627.1:n.1401G>A
ENST00000676708.1:n.1951G>A
ENST00000676864.1:n.1820G>A
ENST00000677010.1:c.707G>A	ENSP00000503089.1:p.Arg236Gln
ENST00000677108.1:n.2577G>A
ENST00000677168.1:n.1143G>A
ENST00000677185.1:n.1234G>A
ENST00000677205.1:n.1455G>A
ENST00000677344.1:n.1945G>A
ENST00000677480.1:c.*348G>A	ENSP00000504378.1:n.*348G>A
ENST00000677519.1:n.1381G>A
ENST00000677593.1:n.1227G>A
ENST00000677740.1:n.2176G>A
ENST00000677991.1:n.1844G>A
ENST00000678001.1:n.1164G>A
ENST00000678085.1:n.1227G>A
ENST00000678177.1:n.2520G>A
ENST00000678603.1:n.1749G>A
ENST00000678724.1:c.596G>A	ENSP00000503874.1:p.Arg199Gln
ENST00000678920.1:n.829G>A
ENST00000679019.1:n.1441G>A
ENST00000679117.1:c.*486G>A	ENSP00000503240.1:n.*486G>A
ENST00000679339.1:n.1512G>A
ENST00000326739.8:c.671G>A	ENSP00000321584.4:p.Arg224Gln
ENST00000429182.5:c.465G>A
ENST00000442157.1:c.596G>A	ENSP00000403502.1:p.Arg199Gln
ENST00000462980.1:n.573G>A
ENST00000491610.1:n.631G>A
NM_000884.2:c.671G>A	NP_000875.2:p.Arg224Gln
XM_006713128.2:c.881G>A	XP_006713191.1:p.Arg294Gln
XM_006713128.3:c.881G>A	XP_006713191.1:p.Arg294Gln
XM_017006349.1:c.806G>A	XP_016861838.1:p.Arg269Gln
XM_017006350.1:c.806G>A	XP_016861839.1:p.Arg269Gln
NM_000884.3:c.671G>A MANE Select	NP_000875.2:p.Arg224Gln