Canonical Allele Identifier: CA352740443

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064221C>T (hg19) ; chr3:g.49026788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026788C>T , CM000665.2:g.49026788C>T	GRCh38
NC_000003.11:g.49064221C>T , CM000665.1:g.49064221C>T	GRCh37
NC_000003.10:g.49039225C>T	NCBI36
NG_012091.1:g.7655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2758G>A	ENSP00000515567.1:p.Ala920Thr
ENST00000703937.1:c.*1819G>A	ENSP00000515568.1:n.*1819G>A
ENST00000326739.9:c.718G>A MANE Select	ENSP00000321584.4:p.Ala240Thr
ENST00000429182.6:c.718G>A	ENSP00000393525.2:p.Ala240Thr
ENST00000442157.2:c.643G>A	ENSP00000403502.2:p.Ala215Thr
ENST00000462980.2:n.1233G>A
ENST00000472328.2:n.784G>A
ENST00000491610.2:n.678G>A
ENST00000676607.1:n.1014G>A
ENST00000676627.1:n.1448G>A
ENST00000676708.1:n.1998G>A
ENST00000676864.1:n.1867G>A
ENST00000677010.1:c.754G>A	ENSP00000503089.1:p.Ala252Thr
ENST00000677108.1:n.2624G>A
ENST00000677168.1:n.1190G>A
ENST00000677185.1:n.1281G>A
ENST00000677205.1:n.1502G>A
ENST00000677344.1:n.1992G>A
ENST00000677480.1:c.*395G>A	ENSP00000504378.1:n.*395G>A
ENST00000677519.1:n.1428G>A
ENST00000677593.1:n.1274G>A
ENST00000677740.1:n.2223G>A
ENST00000677991.1:n.1891G>A
ENST00000678001.1:n.1211G>A
ENST00000678085.1:n.1274G>A
ENST00000678177.1:n.2567G>A
ENST00000678603.1:n.1796G>A
ENST00000678724.1:c.643G>A	ENSP00000503874.1:p.Ala215Thr
ENST00000678920.1:n.876G>A
ENST00000679019.1:n.1488G>A
ENST00000679117.1:c.*533G>A	ENSP00000503240.1:n.*533G>A
ENST00000679339.1:n.1559G>A
ENST00000326739.8:c.718G>A	ENSP00000321584.4:p.Ala240Thr
ENST00000429182.5:c.512G>A
ENST00000442157.1:c.643G>A	ENSP00000403502.1:p.Ala215Thr
ENST00000462980.1:n.620G>A
ENST00000491610.1:n.678G>A
NM_000884.2:c.718G>A	NP_000875.2:p.Ala240Thr
XM_006713128.2:c.928G>A	XP_006713191.1:p.Ala310Thr
XM_006713128.3:c.928G>A	XP_006713191.1:p.Ala310Thr
XM_017006349.1:c.853G>A	XP_016861838.1:p.Ala285Thr
XM_017006350.1:c.853G>A	XP_016861839.1:p.Ala285Thr
NM_000884.3:c.718G>A MANE Select	NP_000875.2:p.Ala240Thr