Canonical Allele Identifier: CA352741239

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064313A>T (hg19) ; chr3:g.49026880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026880A>T , CM000665.2:g.49026880A>T	GRCh38
NC_000003.11:g.49064313A>T , CM000665.1:g.49064313A>T	GRCh37
NC_000003.10:g.49039317A>T	NCBI36
NG_012091.1:g.7563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2666T>A	ENSP00000515567.1:p.Leu889Ter
ENST00000703937.1:c.*1727T>A	ENSP00000515568.1:n.*1727T>A
ENST00000326739.9:c.626T>A MANE Select	ENSP00000321584.4:p.Leu209Ter
ENST00000429182.6:c.626T>A	ENSP00000393525.2:p.Leu209Ter
ENST00000442157.2:c.551T>A	ENSP00000403502.2:p.Leu184Ter
ENST00000462980.2:n.1141T>A
ENST00000472328.2:n.692T>A
ENST00000491610.2:n.586T>A
ENST00000676607.1:n.922T>A
ENST00000676627.1:n.1356T>A
ENST00000676708.1:n.1906T>A
ENST00000676864.1:n.1775T>A
ENST00000677010.1:c.662T>A	ENSP00000503089.1:p.Leu221Ter
ENST00000677108.1:n.2532T>A
ENST00000677168.1:n.1098T>A
ENST00000677185.1:n.1189T>A
ENST00000677205.1:n.1410T>A
ENST00000677344.1:n.1900T>A
ENST00000677480.1:c.*303T>A	ENSP00000504378.1:n.*303T>A
ENST00000677519.1:n.1336T>A
ENST00000677593.1:n.1182T>A
ENST00000677740.1:n.2131T>A
ENST00000677991.1:n.1799T>A
ENST00000678001.1:n.1119T>A
ENST00000678085.1:n.1182T>A
ENST00000678177.1:n.2475T>A
ENST00000678603.1:n.1704T>A
ENST00000678724.1:c.551T>A	ENSP00000503874.1:p.Leu184Ter
ENST00000678920.1:n.784T>A
ENST00000679019.1:n.1396T>A
ENST00000679117.1:c.*441T>A	ENSP00000503240.1:n.*441T>A
ENST00000679339.1:n.1467T>A
ENST00000326739.8:c.626T>A	ENSP00000321584.4:p.Leu209Ter
ENST00000429182.5:c.420T>A
ENST00000442157.1:c.551T>A	ENSP00000403502.1:p.Leu184Ter
ENST00000462980.1:n.528T>A
ENST00000491610.1:n.586T>A
NM_000884.2:c.626T>A	NP_000875.2:p.Leu209Ter
XM_006713128.2:c.836T>A	XP_006713191.1:p.Leu279Ter
XM_006713128.3:c.836T>A	XP_006713191.1:p.Leu279Ter
XM_017006349.1:c.761T>A	XP_016861838.1:p.Leu254Ter
XM_017006350.1:c.761T>A	XP_016861839.1:p.Leu254Ter
NM_000884.3:c.626T>A MANE Select	NP_000875.2:p.Leu209Ter